Variant report

Variant	rs67769616
Chromosome Location	chr11:93473333-93473334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr11:93473256-93473575	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:93473051-93475354	GM12892	blood:	n/a	n/a
3	MTA3	chr11:93472992-93475442	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:93469329-93475448	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr11:93470883-93475415	HCT-116	colon:	n/a	n/a
6	MXI1	chr11:93473204-93473578	HepG2	liver:	n/a	n/a
7	MXI1	chr11:93472666-93475366	GM12878	blood:	n/a	chr11:93474081-93474090 chr11:93474081-93474090 chr11:93474083-93474092
8	POLR2A	chr11:93473178-93475385	NB4	blood:	n/a	n/a
9	POLR2A	chr11:93471623-93475375	GM19099	blood:	n/a	n/a
10	NFATC1	chr11:93473134-93473624	GM12878	blood:	n/a	n/a
11	CHD1	chr11:93472376-93475351	GM12878	blood:	n/a	chr11:93474702-93474711 chr11:93474437-93474447
12	POLR2A	chr11:93458130-93475423	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:93473002-93475493	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr11:93465161-93475401	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr11:93471612-93475305	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr11:93473092-93475416	Hela-S3	cervix:	n/a	n/a
17	NFIC	chr11:93473324-93475326	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:93465505-93475492	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr11:93472841-93475410	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr11:93460849-93475367	GM18505	blood:	n/a	n/a
21	POLR2A	chr11:93473105-93473584	K562	blood:	n/a	n/a
22	MYC	chr11:93473137-93475350	MCF10A-Er-Src	breast:	n/a	chr11:93474081-93474091 chr11:93474082-93474091 chr11:93474080-93474093 chr11:93474442-93474452 chr11:93474082-93474091 chr11:93473728-93473737 chr11:93474215-93474223 chr11:93474081-93474092 chr11:93474082-93474091 chr11:93474081-93474092 chr11:93474324-93474333 chr11:93474082-93474092 chr11:93474755-93474764 chr11:93473729-93473738
23	POLR2A	chr11:93460250-93475527	HepG2	liver:	n/a	n/a
24	POLR2A	chr11:93469624-93475431	PANC-1	pancreas:	n/a	n/a
25	POLR2A	chr11:93471000-93475242	HUVEC	blood vessel:	n/a	n/a
26	MAX	chr11:93473139-93473483	K562	blood:	n/a	n/a
27	POLR2A	chr11:93459876-93475383	H1-hESC	embryonic stem cell:	n/a	n/a
28	RUNX3	chr11:93473139-93473586	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:93469231-93475445	PFSK-1	brain:	n/a	n/a
30	POLR2A	chr11:93466346-93475414	GM12891	blood:	n/a	n/a
31	POLR2A	chr11:93473146-93473566	HepG2	liver:	n/a	n/a
32	USF2	chr11:93473295-93475420	Hela-S3	cervix:	n/a	chr11:93474080-93474091
33	TCF7L2	chr11:93472693-93473641	Hela-S3	cervix:	n/a	chr11:93472856-93472866 chr11:93472857-93472866 chr11:93472855-93472869 chr11:93472854-93472870 chr11:93472858-93472867 chr11:93472854-93472870
34	POLR2A	chr11:93472809-93475257	GM15510	blood:	n/a	n/a
35	JUND	chr11:93473331-93474275	Hela-S3	cervix:	n/a	chr11:93473729-93473737 chr11:93473729-93473738 chr11:93473730-93473737
36	POLR2A	chr11:93460023-93475421	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:93472859-93475315	K562	blood:	n/a	n/a
38	POLR2A	chr11:93472749-93476093	HepG2	liver:	n/a	n/a
39	POLR2A	chr11:93472300-93475117	HUVEC	blood vessel:	n/a	n/a
40	MAX	chr11:93473176-93475402	Hela-S3	cervix:	n/a	chr11:93474081-93474091 chr11:93474082-93474091 chr11:93474080-93474093 chr11:93474442-93474452 chr11:93474082-93474091 chr11:93473728-93473737 chr11:93474215-93474223 chr11:93474081-93474092 chr11:93474082-93474091 chr11:93474081-93474092 chr11:93474324-93474333 chr11:93474082-93474092 chr11:93474755-93474764 chr11:93473729-93473738
41	MAX	chr11:93473209-93475420	NB4	blood:	n/a	chr11:93474081-93474091 chr11:93474082-93474091 chr11:93474080-93474093 chr11:93474442-93474452 chr11:93474082-93474091 chr11:93473728-93473737 chr11:93474215-93474223 chr11:93474081-93474092 chr11:93474082-93474091 chr11:93474081-93474092 chr11:93474324-93474333 chr11:93474082-93474092 chr11:93474755-93474764 chr11:93473729-93473738
42	ATF2	chr11:93472474-93475177	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr11:93473046-93473891	K562	blood:	n/a	n/a
44	POLR2A	chr11:93473147-93473573	GM12878	blood:	n/a	n/a
45	TAF1	chr11:93473244-93473580	Hela-S3	cervix:	n/a	n/a
46	PML	chr11:93472967-93475541	GM12878	blood:	n/a	chr11:93473730-93473739
47	POLR2A	chr11:93470422-93475330	K562	blood:	n/a	n/a
48	POLR2A	chr11:93472326-93475450	GM12892	blood:	n/a	n/a
49	TAF7	chr11:93471730-93475014	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr11:93472800-93473725	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:93472800..93476056-chr11:93515203..93522725,16	MCF-7	breast:
2	chr11:93472896..93475000-chr11:93521473..93523956,3	K562	blood:
3	chr11:93472782..93475284-chr12:120730109..120732929,2	MCF-7	breast:
4	chr11:93274349..93277500-chr11:93472599..93475364,3	K562	blood:
5	chr11:93472961..93474532-chr11:93613286..93616036,2	K562	blood:
6	chr11:82867958..82870523-chr11:93473268..93475069,2	K562	blood:
7	chr11:93393391..93395168-chr11:93473052..93476024,2	K562	blood:
8	chr11:93471347..93475237-chr11:93486063..93491649,6	K562	blood:
9	chr11:93472589..93476859-chr11:93528988..93534877,8	K562	blood:
10	chr11:93462890..93477443-chr11:93512595..93526939,73	K562	blood:
11	chr11:93472413..93474850-chr11:93477709..93480682,4	MCF-7	breast:
12	chr11:93473309..93475727-chr11:93520593..93523450,3	MCF-7	breast:
13	chr11:93472354..93474057-chr11:93524242..93526809,2	K562	blood:
14	chr11:93393652..93395603-chr11:93473209..93475607,2	MCF-7	breast:
15	chr11:93468490..93476714-chr11:93515963..93520210,25	MCF-7	breast:
16	chr11:93393010..93396864-chr11:93472820..93475395,3	K562	blood:
17	chr11:93472702..93474263-chr8:129062907..129064427,2	K562	blood:
18	chr11:93452361..93455098-chr11:93472021..93474456,2	MCF-7	breast:
19	chr11:93473294..93475669-chr11:94705977..94707605,2	MCF-7	breast:
20	chr11:93472363..93476142-chr11:93531511..93536193,5	K562	blood:
21	chr11:93472790..93475144-chr7:30540146..30542802,2	MCF-7	breast:
22	chr11:93429389..93432729-chr11:93472370..93474745,3	K562	blood:
23	chr11:93468648..93476533-chr11:93513626..93520226,41	K562	blood:
24	chr11:93372093..93374223-chr11:93472267..93473882,2	K562	blood:

Variant related genes	Relation type
SNORA40	TF binding region
TAF1D	TF binding region
C11orf54	TF binding region
ENSG00000006625	Chromatin interaction
ENSG00000042429	Chromatin interaction
ENSG00000150316	Chromatin interaction
ENSG00000166012	Chromatin interaction
ENSG00000238437	Chromatin interaction
ENSG00000165494	Chromatin interaction
ENSG00000166004	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000186280	Chromatin interaction
ENSG00000254911	Chromatin interaction
ENSG00000182919	Chromatin interaction
ENSG00000166002	Chromatin interaction
ENSG00000199875	Chromatin interaction
ENSG00000265292	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11822585	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1807990	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2077408	0.88[ASN][1000 genomes]
rs58172303	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58671261	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59031514	0.90[ASN][1000 genomes]
rs61743303	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66460850	0.90[ASN][1000 genomes]
rs67112133	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67182840	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67257421	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67310816	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67437695	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67749053	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67879380	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109236	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7115759	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72643380	0.94[ASN][1000 genomes]
rs7930516	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7937500	0.91[ASN][1000 genomes]
rs7939577	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93466600-93473400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:93468000-93473600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:93468800-93473600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
4	chr11:93469200-93473600	Transcr. at gene 5' and 3'	A549	lung
5	chr11:93469200-93473600	Transcr. at gene 5' and 3'	Osteobl	bone
6	chr11:93469200-93474000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
7	chr11:93469400-93473600	Transcr. at gene 5' and 3'	K562	blood
8	chr11:93469400-93474000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
9	chr11:93469400-93474400	Transcr. at gene 5' and 3'	Dnd41	blood
10	chr11:93469800-93473400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:93469800-93473400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:93470400-93473400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
13	chr11:93470400-93473400	Transcr. at gene 5' and 3'	NHEK	skin
14	chr11:93470400-93473600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
15	chr11:93470400-93473600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
16	chr11:93470400-93473800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
17	chr11:93470800-93473800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
18	chr11:93470800-93475800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:93471000-93473600	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
20	chr11:93471000-93474600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:93471200-93474000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:93471600-93473600	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
23	chr11:93471600-93474000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:93471600-93474200	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
25	chr11:93471800-93473600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:93471800-93473600	Transcr. at gene 5' and 3'	HSMM	muscle
27	chr11:93471800-93473600	Transcr. at gene 5' and 3'	NHLF	lung
28	chr11:93471800-93473800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:93472000-93475800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:93472200-93473800	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr11:93472200-93474200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr11:93472200-93474400	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr11:93472200-93475200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr11:93472200-93475400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:93472200-93475400	Active TSS	H9 Cell Line	embryonic stem cell
36	chr11:93472200-93475600	Active TSS	Ovary	ovary
37	chr11:93472200-93475800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:93472200-93475800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:93472200-93475800	Active TSS	Fetal Intestine Small	intestine
40	chr11:93472400-93473600	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
41	chr11:93472400-93475400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:93472600-93473400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:93472600-93473600	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr11:93472600-93473800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr11:93472600-93474000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:93472600-93474000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr11:93472600-93474400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:93472600-93474600	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr11:93472600-93475400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:93472600-93475600	Active TSS	Duodenum Mucosa	Duodenum

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