Variant report

Variant	rs73981078
Chromosome Location	chr17:17715681-17715682
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17685362..17690405-chr17:17711256..17718354,8	MCF-7	breast:
2	chr17:17715117..17716175-chr17:17763251..17764127,3	MCF-7	breast:
3	chr17:17715220..17715833-chr17:17791811..17792712,2	K562	blood:
4	chr17:17709472..17711211-chr17:17713888..17716285,2	MCF-7	breast:
5	chr17:17715247..17716252-chr17:17762786..17764223,8	K562	blood:
6	chr17:17583267..17584889-chr17:17715443..17717177,2	K562	blood:
7	chr17:17713571..17716045-chr17:17763019..17766158,3	K562	blood:
8	chr17:17715227..17716202-chr17:17822198..17823180,4	K562	blood:
9	chr17:17583640..17587401-chr17:17713270..17717474,6	MCF-7	breast:
10	chr17:17584324..17585094-chr17:17715551..17716179,2	MCF-7	breast:
11	chr17:17715002..17715792-chr17:17763094..17764226,6	MCF-7	breast:
12	chr17:17583267..17586800-chr17:17714001..17718221,4	K562	blood:
13	chr17:17655283..17657640-chr17:17714232..17716062,2	K562	blood:
14	chr17:17584083..17584649-chr17:17715246..17716136,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108557	Chromatin interaction
ENSG00000175662	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs16961971	1.00[EUR][1000 genomes]
rs16961993	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16962003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28528721	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28595155	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28615278	1.00[EUR][1000 genomes]
rs4924814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4924815	1.00[EUR][1000 genomes]
rs4924816	1.00[EUR][1000 genomes]
rs4924818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4924819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4925107	1.00[EUR][1000 genomes]
rs4925111	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4925113	1.00[EUR][1000 genomes]
rs59019513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59064231	1.00[EUR][1000 genomes]
rs59531660	1.00[EUR][1000 genomes]
rs59754425	1.00[EUR][1000 genomes]
rs60492230	1.00[EUR][1000 genomes]
rs73295666	1.00[EUR][1000 genomes]
rs73979203	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979206	1.00[EUR][1000 genomes]
rs73979207	1.00[EUR][1000 genomes]
rs73979241	1.00[EUR][1000 genomes]
rs73979242	1.00[EUR][1000 genomes]
rs73979247	1.00[EUR][1000 genomes]
rs73981070	1.00[EUR][1000 genomes]
rs73981075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7405940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8081943	1.00[EUR][1000 genomes]
rs9889565	1.00[EUR][1000 genomes]
rs9895191	1.00[EUR][1000 genomes]
rs9897573	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9898044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9899537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900884	1.00[EUR][1000 genomes]
rs9900947	1.00[EUR][1000 genomes]
rs9908994	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9910488	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9944449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv907752	chr17:17569012-17750907	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
5	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
6	nsv907753	chr17:17573539-17747289	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
7	nsv907754	chr17:17573539-17782404	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
8	nsv1061126	chr17:17578826-17803194	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
9	nsv543238	chr17:17578826-17803194	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
10	nsv833385	chr17:17594037-17765578	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
11	nsv1058884	chr17:17594370-17803194	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
12	nsv543240	chr17:17594370-17803194	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
13	nsv1064176	chr17:17596222-17803194	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
14	nsv543242	chr17:17596222-17803194	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
15	nsv1062361	chr17:17598407-17746899	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
16	nsv543243	chr17:17598407-17746899	Genic enhancers Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
17	nsv907756	chr17:17619859-17747289	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
18	nsv522668	chr17:17619859-17752809	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
19	nsv907757	chr17:17619859-17752809	Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
20	nsv907758	chr17:17619859-17782404	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
21	nsv907759	chr17:17619859-17802478	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
22	nsv1059949	chr17:17632590-17803194	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
23	nsv543244	chr17:17632590-17803194	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
24	nsv907760	chr17:17649423-17782404	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
25	nsv907761	chr17:17649423-17802478	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
26	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
27	nsv907762	chr17:17668071-17802478	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
28	nsv907763	chr17:17673824-17749822	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
29	nsv907764	chr17:17673824-17754633	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
30	nsv907765	chr17:17682484-17802478	Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
31	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
32	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
33	nsv907767	chr17:17709136-17733760	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
34	nsv907768	chr17:17709136-17747289	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17695400-17723800	Strong transcription	Dnd41	blood
2	chr17:17697200-17715800	Strong transcription	Thymus	Thymus
3	chr17:17707000-17723000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr17:17707400-17722400	Weak transcription	Primary B cells from cord blood	blood
5	chr17:17708000-17723600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr17:17708400-17716600	Enhancers	Fetal Heart	heart
7	chr17:17709200-17717800	Weak transcription	Psoas Muscle	Psoas
8	chr17:17709800-17716000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr17:17710000-17721800	Weak transcription	HSMM	muscle
10	chr17:17710200-17724400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr17:17711800-17721600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr17:17712200-17716000	Enhancers	NH-A	brain
13	chr17:17712200-17716200	Enhancers	Fetal Lung	lung
14	chr17:17712200-17716200	Genic enhancers	Lung	lung
15	chr17:17712800-17724000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr17:17713000-17716400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr17:17713200-17716600	Enhancers	Fetal Brain Male	brain
18	chr17:17713200-17720800	Weak transcription	GM12878-XiMat	blood
19	chr17:17713400-17716000	Genic enhancers	Fetal Thymus	thymus
20	chr17:17713400-17716200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:17713400-17716200	Enhancers	Liver	Liver
22	chr17:17713400-17716400	Genic enhancers	Brain Inferior Temporal Lobe	brain
23	chr17:17713400-17716800	Genic enhancers	Placenta	Placenta
24	chr17:17713400-17721600	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr17:17713400-17722800	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr17:17713600-17716000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr17:17713600-17717800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
28	chr17:17713600-17721600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr17:17713800-17716000	Genic enhancers	Adipose Nuclei	Adipose
30	chr17:17713800-17716000	Genic enhancers	Fetal Intestine Large	intestine
31	chr17:17713800-17716000	Genic enhancers	Fetal Stomach	stomach
32	chr17:17713800-17716200	Genic enhancers	Colonic Mucosa	Colon
33	chr17:17713800-17716600	Strong transcription	Osteobl	bone
34	chr17:17713800-17716800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr17:17713800-17720000	Genic enhancers	Fetal Muscle Leg	muscle
36	chr17:17713800-17721200	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr17:17714000-17716000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr17:17714000-17716000	Genic enhancers	Fetal Intestine Small	intestine
39	chr17:17714000-17716000	Enhancers	Right Ventricle	heart
40	chr17:17714000-17716200	Genic enhancers	Esophagus	oesophagus
41	chr17:17714000-17716200	Enhancers	Right Atrium	heart
42	chr17:17714000-17716400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr17:17714000-17719800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr17:17714000-17720200	Genic enhancers	Fetal Muscle Trunk	muscle
45	chr17:17714000-17725800	Weak transcription	Aorta	Aorta
46	chr17:17714200-17716200	Genic enhancers	Brain Germinal Matrix	brain
47	chr17:17714200-17716200	Genic enhancers	Duodenum Smooth Muscle	Duodenum
48	chr17:17714200-17716200	Genic enhancers	Left Ventricle	heart
49	chr17:17714200-17716200	Enhancers	Ovary	ovary
50	chr17:17714200-17716400	Genic enhancers	Pancreas	Pancrea

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