Variant report

Variant	rs312782
Chromosome Location	chr11:68114921-68114922
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:68107354..68109500-chr11:68111618..68115254,3	K562	blood:
2	chr11:68107593..68111498-chr11:68113363..68117300,5	MCF-7	breast:
3	chr11:68113645..68115715-chr11:68116724..68119590,2	MCF-7	breast:
4	chr11:68114310..68115817-chr11:68120866..68122449,2	MCF-7	breast:
5	chr11:68110633..68112751-chr11:68113454..68115188,4	K562	blood:
6	chr11:68037371..68039982-chr11:68113858..68115763,2	K562	blood:
7	chr11:68113675..68115970-chr11:68117419..68119405,2	K562	blood:
8	chr11:68113529..68115408-chr11:68153992..68155661,2	MCF-7	breast:
9	chr11:68108931..68115142-chr11:68135401..68140500,11	MCF-7	breast:
10	chr11:68114086..68116989-chr11:68117295..68119405,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000171067	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs160517	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs160607	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs178352	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs312778	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs312779	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs312780	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs312783	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312784	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs312785	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312788	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312790	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312791	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312792	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314775	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs314776	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs587808	0.81[AMR][1000 genomes]
rs643892	0.81[AMR][1000 genomes]
rs643981	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs659605	0.81[AMR][1000 genomes]
rs671191	0.81[AMR][1000 genomes]
rs74744	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs91285	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	esv3347272	chr11:67969427-68218997	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv897857	chr11:68056770-68231240	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription 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	22 gene(s)	inside rSNPs	diseases
4	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv897859	chr11:68102000-68231240	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1047532	chr11:68103330-68239242	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS 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	17 gene(s)	inside rSNPs	diseases
8	nsv541082	chr11:68103330-68239242	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68096600-68126000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:68098400-68115000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:68104600-68119600	Enhancers	Liver	Liver
4	chr11:68106200-68121800	Weak transcription	Psoas Muscle	Psoas
5	chr11:68107800-68115000	Genic enhancers	Fetal Intestine Small	intestine
6	chr11:68108000-68115000	Weak transcription	Dnd41	blood
7	chr11:68108600-68115000	Enhancers	Placenta	Placenta
8	chr11:68108600-68121800	Weak transcription	HUVEC	blood vessel
9	chr11:68109000-68115600	Weak transcription	Primary T cells from cord blood	blood
10	chr11:68109000-68117000	Weak transcription	Thymus	Thymus
11	chr11:68109200-68119800	Weak transcription	Hela-S3	cervix
12	chr11:68110200-68118200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:68110600-68137800	Weak transcription	Brain Angular Gyrus	brain
14	chr11:68110800-68119200	Weak transcription	NH-A	brain
15	chr11:68110800-68125200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:68111000-68117000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:68111000-68122200	Weak transcription	Small Intestine	intestine
18	chr11:68111200-68115000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:68111200-68117200	Weak transcription	Fetal Lung	lung
20	chr11:68111200-68118200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:68111200-68120400	Weak transcription	HSMM	muscle
22	chr11:68111200-68121600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:68111200-68137400	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:68111400-68116600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:68111400-68121200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:68111400-68126400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:68111600-68116800	Weak transcription	Colonic Mucosa	Colon
28	chr11:68111600-68117000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:68111600-68118200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:68111600-68121000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:68111800-68115200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:68111800-68120600	Weak transcription	NHEK	skin
33	chr11:68111800-68120800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr11:68112000-68120200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:68112200-68115400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr11:68112200-68121200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr11:68113000-68115400	Enhancers	Right Atrium	heart
38	chr11:68113200-68115200	Enhancers	Right Ventricle	heart
39	chr11:68113200-68115800	Enhancers	K562	blood
40	chr11:68113400-68115400	Enhancers	Lung	lung
41	chr11:68113400-68119600	Weak transcription	A549	lung
42	chr11:68113400-68121200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr11:68113400-68125600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:68113400-68126400	Weak transcription	Fetal Brain Male	brain
45	chr11:68113600-68115000	Genic enhancers	Fetal Muscle Trunk	muscle
46	chr11:68113600-68115200	Enhancers	Ovary	ovary
47	chr11:68113600-68115400	Enhancers	Esophagus	oesophagus
48	chr11:68113600-68115400	Enhancers	Left Ventricle	heart
49	chr11:68113600-68115400	Enhancers	Stomach Mucosa	stomach
50	chr11:68113600-68115400	Genic enhancers	HepG2	liver

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