Variant report

Variant	rs2010583
Chromosome Location	chr11:73587997-73587998
allele	C/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	POLR2A	chr11:73587406-73588463	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:73587432-73588444	Hela-S3	cervix:	n/a	n/a
3	REST	chr11:73587258-73588415	H1-neurons	neurons:	n/a	n/a
4	ZMIZ1	chr11:73587914-73588461	K562	blood:	n/a	n/a
5	CCNT2	chr11:73587609-73588220	K562	blood:	n/a	chr11:73587927-73587936
6	SIN3AK20	chr11:73587435-73588263	K562	blood:	n/a	n/a
7	POLR2A	chr11:73587323-73588515	SK-N-MC	brain:	n/a	n/a
8	NFYA	chr11:73587755-73588343	K562	blood:	n/a	chr11:73587949-73587967
9	POLR2A	chr11:73587405-73588419	K562	blood:	n/a	n/a
10	E2F4	chr11:73587914-73588189	GM12878	blood:	n/a	chr11:73588052-73588061
11	GABPA	chr11:73587548-73588340	K562	blood:	n/a	chr11:73587720-73587731 chr11:73587729-73587738 chr11:73587722-73587731 chr11:73587720-73587734
12	ZNF143	chr11:73587665-73588035	Hela-S3	cervix:	n/a	n/a
13	MAX	chr11:73587263-73588406	MCF-7	breast:	n/a	chr11:73587946-73587954
14	POLR2A	chr11:73587399-73588455	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr11:73587391-73588432	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr11:73587507-73588202	A549	lung:	n/a	n/a
17	SP1	chr11:73587695-73588264	GM12878	blood:	n/a	chr11:73587928-73587937 chr11:73588052-73588062 chr11:73588025-73588039 chr11:73587927-73587936 chr11:73587926-73587938 chr11:73587928-73587937 chr11:73588052-73588061 chr11:73588051-73588063 chr11:73587926-73587937 chr11:73588048-73588062 chr11:73587923-73587937 chr11:73588053-73588062
18	STAT5A	chr11:73587380-73588462	GM12878	blood:	n/a	chr11:73588381-73588389 chr11:73588021-73588030 chr11:73588015-73588035 chr11:73588021-73588029 chr11:73588006-73588029 chr11:73587628-73587635 chr11:73588020-73588029 chr11:73588015-73588035 chr11:73588281-73588304
19	GABPA	chr11:73587551-73588258	H1-hESC	embryonic stem cell:	n/a	chr11:73587720-73587731 chr11:73587729-73587738 chr11:73587722-73587731 chr11:73587720-73587734
20	MYC	chr11:73587407-73588478	K562	blood:	n/a	chr11:73587946-73587954
21	BCL3	chr11:73587545-73588287	A549	lung:	n/a	chr11:73588018-73588027
22	TAF1	chr11:73587532-73588339	PFSK-1	brain:	n/a	n/a
23	YY1	chr11:73587664-73588268	HepG2	liver:	n/a	n/a
24	POLR2A	chr11:73587373-73588445	U87	brain:	n/a	n/a
25	JUND	chr11:73587456-73588142	HepG2	liver:	n/a	n/a
26	NFATC1	chr11:73587456-73588143	GM12878	blood:	n/a	n/a
27	POLR2A	chr11:73587192-73588382	PFSK-1	brain:	n/a	n/a
28	MYC	chr11:73587328-73588403	H1-hESC	embryonic stem cell:	n/a	chr11:73587946-73587954
29	HNF4G	chr11:73587487-73588164	HepG2	liver:	n/a	chr11:73587700-73587715 chr11:73587700-73587715 chr11:73587700-73587715 chr11:73587702-73587714 chr11:73587702-73587714 chr11:73587700-73587715
30	JUND	chr11:73587507-73588380	K562	blood:	n/a	n/a
31	CHD2	chr11:73587492-73588415	Hela-S3	cervix:	n/a	n/a
32	SIN3AK20	chr11:73587607-73588338	SK-N-SH	brain:	n/a	n/a
33	SP1	chr11:73587626-73588267	HepG2	liver:	n/a	chr11:73587928-73587937 chr11:73588052-73588062 chr11:73588025-73588039 chr11:73587927-73587936 chr11:73587926-73587938 chr11:73587928-73587937 chr11:73588052-73588061 chr11:73588051-73588063 chr11:73587926-73587937 chr11:73588048-73588062 chr11:73587923-73587937 chr11:73588053-73588062
34	HNF4A	chr11:73587412-73588146	HepG2	liver:	n/a	chr11:73587700-73587715 chr11:73587700-73587715 chr11:73587700-73587715 chr11:73587700-73587715 chr11:73587702-73587714 chr11:73587702-73587714 chr11:73587700-73587715
35	POLR2A	chr11:73587448-73588269	HepG2	liver:	n/a	n/a
36	HEY1	chr11:73587313-73588425	HepG2	liver:	n/a	n/a
37	GTF2F1	chr11:73587457-73588366	H1-hESC	embryonic stem cell:	n/a	n/a
38	NFIC	chr11:73587488-73588411	HepG2	liver:	n/a	n/a
39	RCOR1	chr11:73587542-73588484	K562	blood:	n/a	n/a
40	SPI1	chr11:73587463-73588154	GM12878	blood:	n/a	n/a
41	GABPA	chr11:73587659-73588157	GM12878	blood:	n/a	chr11:73587720-73587731 chr11:73587729-73587738 chr11:73587722-73587731 chr11:73587720-73587734
42	POLR2A	chr11:73587329-73588400	PANC-1	pancreas:	n/a	n/a
43	TBP	chr11:73587387-73588338	HepG2	liver:	n/a	n/a
44	POLR2A	chr11:73587453-73588385	GM18951	blood:	n/a	n/a
45	MXI1	chr11:73587450-73588532	HepG2	liver:	n/a	n/a
46	JUND	chr11:73587751-73588216	HepG2	liver:	n/a	n/a
47	RCOR1	chr11:73587558-73588303	HepG2	liver:	n/a	n/a
48	RAD21	chr11:73587584-73588067	SK-N-SH_RA	brain:	n/a	n/a
49	CHD2	chr11:73587772-73588270	K562	blood:	n/a	n/a
50	USF1	chr11:73587791-73588107	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:73587952-73588002	HL-60	blood:	n/a
2	chr11:73587952-73588002	HCT-116	colon:	n/a
3	chr11:73587952-73588002	HEEpiC	esophagus:	n/a
4	chr11:73587952-73588002	SAEC	small airway:	n/a
5	chr11:73587952-73588002	LNCaP	prostate:	n/a
6	chr11:73587952-73588002	GM06990	blood:	n/a
7	chr11:73587952-73588002	HRPEpiC	eye:	n/a
8	chr11:73587952-73588002	HIPEpiC	eye:	n/a
9	chr11:73587952-73588002	HCM	heart:	n/a
10	chr11:73587952-73588002	AG09309	skin:	n/a
11	chr11:73587952-73588002	AG04450	lung:	fetal
12	chr11:73587952-73588002	CMK	blood:	n/a
13	chr11:73587952-73588002	HCF	heart:	n/a
14	chr11:73587952-73588002	H1-hESC	embryonic stem cell:	embryo
15	chr11:73587952-73588002	AG10803	skin:	n/a
16	chr11:73587952-73588002	MCF-7	breast:	n/a
17	chr11:73587952-73588002	Hepatocyte	liver:	n/a
18	chr11:73587952-73588002	A549	lung:	n/a
19	chr11:73587952-73588002	NH-A	brain:	n/a
20	chr11:73587952-73588002	Hela-S3	cervix:	n/a
21	chr11:73587952-73588002	T-47D	breast:	n/a
22	chr11:73587952-73588002	K562	blood:	n/a
23	chr11:73587952-73588002	SK-N-SH	brain:	n/a
24	chr11:73587952-73588002	PFSK-1	brain:	n/a
25	chr11:73587952-73588002	HMEC	breast:	n/a
26	chr11:73587952-73588002	GM12878	blood:	n/a
27	chr11:73587952-73588002	NT2-D1	testis:	n/a
28	chr11:73587952-73588002	HNPCEpiC	eye:	n/a
29	chr11:73587952-73588002	HPAEpiC	pulmonary alveolar:	n/a
30	chr11:73587952-73588002	ProgFib	skin:	n/a
31	chr11:73587952-73588002	GM19239	blood:	n/a
32	chr11:73587952-73588002	NHDF-neo	bronchial:	n/a
33	chr11:73587952-73588002	IMR90	lung:	fetal
34	chr11:73587952-73588002	AG04449	skin:	fetal
35	chr11:73587952-73588002	HEK293	kidney:	embryo
36	chr11:73587952-73588002	RPTEC	kidney:	n/a
37	chr11:73587952-73588002	AG09319	gingival:	n/a
38	chr11:73587952-73588002	SK-N-SH_RA	brain:	n/a
39	chr11:73587952-73588002	Caco-2	colon:	n/a
40	chr11:73587952-73588002	BE2_C	brain:	n/a
41	chr11:73587952-73588002	SKMC	muscle:	n/a
42	chr11:73587952-73588002	U87	brain:	n/a
43	chr11:73587952-73588002	MCF10A-Er-Src	breast:	n/a
44	chr11:73587952-73588002	NHBE	bronchial:	n/a
45	chr11:73587952-73588002	HRCEpiC	kidney:	n/a
46	chr11:73587952-73588002	PANC-1	pancreas:	n/a
47	chr11:73587952-73588002	ovcar-3	ovarian:	n/a
48	chr11:73587952-73588002	Jurkat	blood:	n/a
49	chr11:73587952-73588002	HCPEpiC	choroid plexus:	n/a
50	chr11:73587952-73588002	HAEpiC	amniotic membrane:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73587992..73588608-chr12:51441696..51442224,2	Hela-S3	cervix:
2	chr11:73586614..73588298-chr11:73691679..73694031,2	MCF-7	breast:
3	chr11:73497005..73500757-chr11:73586552..73589226,3	MCF-7	breast:
4	chr11:73496600..73498927-chr11:73587563..73589388,3	MCF-7	breast:
5	chr11:73101451..73103302-chr11:73587436..73589979,2	MCF-7	breast:
6	chr11:73587349..73588093-chr5:32174139..32174717,2	Hela-S3	cervix:
7	chr11:73587462..73590069-chr11:73692817..73694652,2	K562	blood:
8	chr11:73586922..73589181-chr11:73687473..73690308,2	K562	blood:
9	chr11:73371085..73373574-chr11:73587519..73589689,2	MCF-7	breast:
10	chr11:73470519..73472838-chr11:73586575..73589489,2	MCF-7	breast:
11	chr11:73586195..73589455-chr11:73595184..73599458,5	K562	blood:
12	chr1:45196591..45197186-chr11:73587825..73588807,2	Hela-S3	cervix:
13	chr11:73497934..73501442-chr11:73586433..73589232,4	K562	blood:
14	chr11:73561396..73563190-chr11:73586295..73588149,3	MCF-7	breast:
15	chr11:73497415..73503223-chr11:73585602..73589591,8	K562	blood:
16	chr11:73585766..73589510-chr11:73599101..73602813,5	MCF-7	breast:

Variant related genes	Relation type
COA4	TF binding region
PAAF1	TF binding region
PAAF1	CpG island
COA4	CpG island
ENSG00000021300	Chromatin interaction
ENSG00000175567	Chromatin interaction
ENSG00000256681	Chromatin interaction
ENSG00000175575	Chromatin interaction
ENSG00000113384	Chromatin interaction
ENSG00000256034	Chromatin interaction
ENSG00000054967	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000272086	Chromatin interaction
ENSG00000175581	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000175582	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1122373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235909	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11235921	0.91[ASN][1000 genomes]
rs11235924	0.98[ASN][1000 genomes]
rs11235940	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs11235941	0.95[ASN][1000 genomes]
rs11235944	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11235948	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11235956	0.91[ASN][1000 genomes]
rs11828006	0.83[ASN][1000 genomes]
rs12269892	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12280222	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12284235	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs12284670	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12287418	0.90[ASN][1000 genomes]
rs12291665	0.91[ASN][1000 genomes]
rs12294934	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs12295206	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12420040	0.92[ASN][1000 genomes]
rs12577447	0.83[ASN][1000 genomes]
rs1670539	1.00[CHB][hapmap]
rs17132305	0.85[CEU][hapmap]
rs17132368	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17132495	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs2067913	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs3741138	0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3741139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56006060	0.98[ASN][1000 genomes]
rs56380005	0.98[ASN][1000 genomes]
rs58695771	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59716840	0.83[ASN][1000 genomes]
rs7111424	0.83[ASN][1000 genomes]
rs7116620	0.98[ASN][1000 genomes]
rs7119602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73549968	0.94[ASN][1000 genomes]
rs935985	1.00[CHB][hapmap]
rs935988	1.00[CHB][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS 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	85 gene(s)	inside rSNPs	diseases
3	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers 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 target site	47 gene(s)	inside rSNPs	diseases
4	nsv1038105	chr11:73552023-73673836	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1035977	chr11:73581224-73617653	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr11:73586400-73588800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr11:73586600-73588600	Active TSS	Fetal Intestine Small	intestine
3	chr11:73586600-73588600	Active TSS	Fetal Muscle Trunk	muscle
4	chr11:73586600-73588800	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr11:73586600-73588800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr11:73586600-73588800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:73586600-73588800	Active TSS	A549	lung
8	chr11:73586600-73588800	Active TSS	HMEC	breast
9	chr11:73586600-73589000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:73586600-73589600	Active TSS	GM12878-XiMat	blood
11	chr11:73586800-73588600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:73586800-73588600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:73586800-73588800	Active TSS	H9 Cell Line	embryonic stem cell
14	chr11:73586800-73588800	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr11:73586800-73588800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:73586800-73588800	Active TSS	NHDF-Ad	bronchial
17	chr11:73587000-73588400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:73587000-73588400	Active TSS	Muscle Satellite Cultured Cells	--
19	chr11:73587000-73588400	Active TSS	Stomach Smooth Muscle	stomach
20	chr11:73587000-73588400	Active TSS	Hela-S3	cervix
21	chr11:73587000-73588400	Active TSS	NHEK	skin
22	chr11:73587000-73588600	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr11:73587000-73588600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:73587000-73588600	Active TSS	Fetal Intestine Large	intestine
25	chr11:73587000-73588600	Active TSS	Fetal Kidney	kidney
26	chr11:73587000-73588600	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr11:73587000-73588600	Active TSS	Gastric	stomach
28	chr11:73587000-73588800	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr11:73587000-73588800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:73587000-73588800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:73587000-73588800	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr11:73587000-73588800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:73587000-73588800	Active TSS	Psoas Muscle	Psoas
34	chr11:73587000-73589000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:73587000-73589000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:73587000-73589000	Active TSS	HSMM	muscle
37	chr11:73587000-73589200	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr11:73587000-73589200	Active TSS	K562	blood
39	chr11:73587000-73589400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:73587200-73588200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:73587200-73588200	Active TSS	Primary T cells fromperipheralblood	blood
42	chr11:73587200-73588200	Active TSS	Liver	Liver
43	chr11:73587200-73588200	Active TSS	Fetal Thymus	thymus
44	chr11:73587200-73588200	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr11:73587200-73588400	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr11:73587200-73588400	Active TSS	Brain Angular Gyrus	brain
47	chr11:73587200-73588400	Active TSS	Brain Anterior Caudate	brain
48	chr11:73587200-73588400	Active TSS	Brain Cingulate Gyrus	brain
49	chr11:73587200-73588400	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr11:73587200-73588400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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