Variant report

Variant	rs17030972
Chromosome Location	chr1:113618956-113618957
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:113618919-113618969	HNPCEpiC	eye:	n/a
2	chr1:113618919-113618969	HepG2	liver:	n/a
3	chr1:113618919-113618969	AG04449	skin:	fetal
4	chr1:113618919-113618969	NHDF-neo	bronchial:	n/a
5	chr1:113618919-113618969	GM06990	blood:	n/a
6	chr1:113618919-113618969	HCF	heart:	n/a
7	chr1:113618919-113618969	Hepatocyte	liver:	n/a
8	chr1:113618919-113618969	Jurkat	blood:	n/a
9	chr1:113618919-113618969	Hela-S3	cervix:	n/a
10	chr1:113618919-113618969	HRE	kidney:	n/a
11	chr1:113618919-113618969	NH-A	brain:	n/a
12	chr1:113618919-113618969	GM19239	blood:	n/a
13	chr1:113618919-113618969	SAEC	small airway:	n/a
14	chr1:113618919-113618969	U87	brain:	n/a
15	chr1:113618919-113618969	NB4	blood:	n/a
16	chr1:113618919-113618969	AoSMC	blood vessel:	n/a
17	chr1:113618919-113618969	ECC-1	luminal epithelium:	n/a
18	chr1:113618919-113618969	GM12878	blood:	n/a
19	chr1:113618919-113618969	Caco-2	colon:	n/a
20	chr1:113618919-113618969	MCF10A-Er-Src	breast:	n/a
21	chr1:113618919-113618969	HEK293	kidney:	embryo
22	chr1:113618919-113618969	BJ	skin:	n/a
23	chr1:113618919-113618969	IMR90	lung:	fetal
24	chr1:113618919-113618969	T-47D	breast:	n/a
25	chr1:113618919-113618969	HIPEpiC	eye:	n/a
26	chr1:113618919-113618969	HAEpiC	amniotic membrane:	n/a
27	chr1:113618919-113618969	AG09309	skin:	n/a
28	chr1:113618919-113618969	SK-N-MC	brain:	n/a
29	chr1:113618919-113618969	HEEpiC	esophagus:	n/a
30	chr1:113618919-113618969	H1-hESC	embryonic stem cell:	embryo
31	chr1:113618919-113618969	ovcar-3	ovarian:	n/a
32	chr1:113618919-113618969	SK-N-SH_RA	brain:	n/a
33	chr1:113618919-113618969	NHBE	bronchial:	n/a
34	chr1:113618919-113618969	SKMC	muscle:	n/a
35	chr1:113618919-113618969	CMK	blood:	n/a
36	chr1:113618919-113618969	HUVEC	blood vessel:	n/a
37	chr1:113618919-113618969	HPAEpiC	pulmonary alveolar:	n/a
38	chr1:113618919-113618969	HRPEpiC	eye:	n/a
39	chr1:113618919-113618969	HCM	heart:	n/a
40	chr1:113618919-113618969	HMEC	breast:	n/a
41	chr1:113618919-113618969	K562	blood:	n/a
42	chr1:113618919-113618969	HCPEpiC	choroid plexus:	n/a
43	chr1:113618919-113618969	PANC-1	pancreas:	n/a
44	chr1:113618919-113618969	PFSK-1	brain:	n/a
45	chr1:113618919-113618969	AG09319	gingival:	n/a
46	chr1:113618919-113618969	SK-N-SH	brain:	n/a
47	chr1:113618919-113618969	HCT-116	colon:	n/a
48	chr1:113618919-113618969	A549	lung:	n/a
49	chr1:113618919-113618969	HL-60	blood:	n/a
50	chr1:113618919-113618969	GM12891	blood:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113615839..113617741-chr1:113618615..113621229,2	K562	blood:
2	chr1:113618266..113620645-chr1:113628219..113630833,2	K562	blood:
3	chr1:113615006..113617589-chr1:113617756..113622024,6	MCF-7	breast:
4	chr1:113615363..113617741-chr1:113618615..113621182,4	K562	blood:
5	chr1:113615345..113617291-chr1:113618178..113621807,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000238198	CpG island
ENSG00000198799	Chromatin interaction
ENSG00000238198	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10158316	1.00[EUR][1000 genomes]
rs12059435	1.00[EUR][1000 genomes]
rs12067118	1.00[EUR][1000 genomes]
rs12070103	1.00[EUR][1000 genomes]
rs12070165	1.00[EUR][1000 genomes]
rs17030801	1.00[EUR][1000 genomes]
rs17030825	1.00[EUR][1000 genomes]
rs17031107	1.00[EUR][1000 genomes]
rs3866218	1.00[EUR][1000 genomes]
rs3892517	1.00[EUR][1000 genomes]
rs41510545	1.00[EUR][1000 genomes]
rs55879014	1.00[EUR][1000 genomes]
rs56037773	1.00[EUR][1000 genomes]
rs57514267	1.00[EUR][1000 genomes]
rs57546902	1.00[EUR][1000 genomes]
rs58175041	1.00[EUR][1000 genomes]
rs60031820	1.00[EUR][1000 genomes]
rs60103137	1.00[EUR][1000 genomes]
rs60860858	1.00[EUR][1000 genomes]
rs61134101	1.00[EUR][1000 genomes]
rs6657154	1.00[EUR][1000 genomes]
rs6678201	1.00[EUR][1000 genomes]
rs6694556	1.00[EUR][1000 genomes]
rs6697225	1.00[EUR][1000 genomes]
rs72982471	1.00[EUR][1000 genomes]
rs72984355	1.00[EUR][1000 genomes]
rs72986328	1.00[EUR][1000 genomes]
rs72986329	1.00[EUR][1000 genomes]
rs72986335	1.00[EUR][1000 genomes]
rs72986336	1.00[EUR][1000 genomes]
rs72986345	1.00[EUR][1000 genomes]
rs73000304	1.00[EUR][1000 genomes]
rs73000323	1.00[EUR][1000 genomes]
rs73000328	1.00[EUR][1000 genomes]
rs7531239	1.00[EUR][1000 genomes]
rs7534668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7539797	1.00[EUR][1000 genomes]
rs7541153	1.00[EUR][1000 genomes]
rs9308259	1.00[EUR][1000 genomes]
rs9429498	1.00[EUR][1000 genomes]
rs9429499	1.00[EUR][1000 genomes]
rs9429502	1.00[EUR][1000 genomes]
rs9429699	1.00[EUR][1000 genomes]
rs9429703	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers 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	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer 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	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
7	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
8	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
9	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
10	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	nsv946146	chr1:113567302-113640814	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv508537	chr1:113590343-113635803	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv437002	chr1:113592588-113658887	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113616800-113619400	Weak transcription	Placenta	Placenta
2	chr1:113616800-113621400	Weak transcription	Lung	lung
3	chr1:113616800-113625600	Weak transcription	Esophagus	oesophagus
4	chr1:113616800-113638600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:113617000-113620200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:113617000-113620800	Weak transcription	Fetal Lung	lung
7	chr1:113617000-113630800	Weak transcription	Ovary	ovary
8	chr1:113617000-113636800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:113617000-113636800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:113617000-113638400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:113617000-113645800	Weak transcription	Aorta	Aorta
12	chr1:113617200-113619000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr1:113617200-113619000	Enhancers	Fetal Brain Male	brain
14	chr1:113617200-113619000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:113617200-113619200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:113617200-113619200	Weak transcription	K562	blood
17	chr1:113617200-113619400	Weak transcription	Osteobl	bone
18	chr1:113617200-113619600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:113617200-113619600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr1:113617200-113619600	Enhancers	Colon Smooth Muscle	Colon
21	chr1:113617200-113619800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:113617200-113619800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr1:113617200-113619800	Weak transcription	Left Ventricle	heart
24	chr1:113617200-113620000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr1:113617200-113620600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:113617200-113620800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:113617200-113620800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr1:113617200-113620800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:113617200-113620800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:113617200-113620800	Weak transcription	NH-A	brain
31	chr1:113617200-113621000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr1:113617200-113621000	Weak transcription	Brain Anterior Caudate	brain
33	chr1:113617200-113621200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:113617200-113621400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:113617200-113630400	Weak transcription	Fetal Kidney	kidney
36	chr1:113617200-113631200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:113617200-113631600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr1:113617200-113633800	Weak transcription	Liver	Liver
39	chr1:113617200-113635800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:113617200-113636400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr1:113617200-113636400	Weak transcription	HSMMtube	muscle
42	chr1:113617200-113636400	Weak transcription	NHDF-Ad	bronchial
43	chr1:113617200-113642600	Weak transcription	A549	lung
44	chr1:113617400-113619000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:113617400-113619200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:113617400-113619400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr1:113617400-113619600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:113617400-113619600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:113617400-113619800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:113617400-113619800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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