Variant report

Variant	rs11736950
Chromosome Location	chr4:1107376-1107377
allele	C/T
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	MXI1	chr4:1107360-1107418	Hela-S3	cervix:	n/a	n/a
2	BRCA1	chr4:1107251-1107567	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr4:1107286-1107524	Hela-S3	cervix:	n/a	n/a
4	MAX	chr4:1107002-1107592	A549	lung:	n/a	chr4:1107035-1107044 chr4:1107037-1107046 chr4:1107038-1107045
5	TAF1	chr4:1107275-1107605	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr4:1107195-1107601	Hela-S3	cervix:	n/a	n/a
7	TBP	chr4:1107216-1107553	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr4:1107002-1107816	A549	lung:	n/a	chr4:1107351-1107360 chr4:1107568-1107577 chr4:1107402-1107414
9	POLR2A	chr4:1107184-1107659	H1-hESC	embryonic stem cell:	n/a	n/a
10	NRF1	chr4:1107086-1107639	SK-N-SH	brain:	n/a	chr4:1107375-1107389 chr4:1107568-1107577 chr4:1107347-1107361 chr4:1107352-1107361 chr4:1107350-1107361 chr4:1107378-1107392 chr4:1107350-1107364 chr4:1107570-1107579
11	BACH1	chr4:1107126-1107605	H1-hESC	embryonic stem cell:	n/a	n/a
12	MXI1	chr4:1107303-1107574	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr4:1107011-1107753	A549	lung:	n/a	chr4:1107035-1107044 chr4:1107645-1107655 chr4:1107037-1107046 chr4:1107038-1107045
14	CHD2	chr4:1107089-1107606	H1-hESC	embryonic stem cell:	n/a	n/a
15	GTF2F1	chr4:1107080-1107580	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr4:1107348-1107563	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr4:1107196-1107513	A549	lung:	n/a	n/a
18	POLR2A	chr4:1107147-1107576	Hela-S3	cervix:	n/a	n/a
19	HA-E2F1	chr4:1107200-1107652	Hela-S3	cervix:	n/a	chr4:1107351-1107360 chr4:1107568-1107577 chr4:1107402-1107414
20	POLR2A	chr4:1107355-1107488	A549	lung:	n/a	n/a
21	E2F6	chr4:1107066-1107636	Hela-S3	cervix:	n/a	chr4:1107351-1107360 chr4:1107568-1107577 chr4:1107402-1107414
22	SP4	chr4:1107061-1107457	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr4:1107011-1107767	A549	lung:	n/a	chr4:1107035-1107044 chr4:1107645-1107655 chr4:1107755-1107764 chr4:1107037-1107046 chr4:1107038-1107045
24	POLR2A	chr4:1107140-1107645	Hela-S3	cervix:	n/a	n/a
25	MAX	chr4:1107001-1107674	SK-N-SH	brain:	n/a	chr4:1107035-1107044 chr4:1107645-1107655 chr4:1107037-1107046 chr4:1107038-1107045
26	POLR2A	chr4:1107243-1107603	HUVEC	blood vessel:	n/a	n/a
27	NRF1	chr4:1107200-1107543	Hela-S3	cervix:	n/a	chr4:1107375-1107389 chr4:1107347-1107361 chr4:1107352-1107361 chr4:1107350-1107361 chr4:1107378-1107392 chr4:1107350-1107364
28	SIN3A	chr4:1107303-1107614	H1-hESC	embryonic stem cell:	n/a	chr4:1107399-1107410
29	ZNF143	chr4:1107261-1107533	H1-hESC	embryonic stem cell:	n/a	chr4:1107376-1107386
30	NRF1	chr4:1107177-1107563	H1-hESC	embryonic stem cell:	n/a	chr4:1107375-1107389 chr4:1107347-1107361 chr4:1107352-1107361 chr4:1107350-1107361 chr4:1107378-1107392 chr4:1107350-1107364
31	MAZ	chr4:1107321-1107589	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr4:1107140-1107607	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr4:1107048-1107571	SK-N-MC	brain:	n/a	n/a
34	POLR2A	chr4:1107237-1107478	HUVEC	blood vessel:	n/a	n/a
35	TEAD4	chr4:1107286-1107569	H1-hESC	embryonic stem cell:	n/a	n/a
36	E2F6	chr4:1106952-1107864	H1-hESC	embryonic stem cell:	n/a	chr4:1107351-1107360 chr4:1107568-1107577 chr4:1107402-1107414
37	MAX	chr4:1107004-1107640	SK-N-SH	brain:	n/a	chr4:1107035-1107044 chr4:1107037-1107046 chr4:1107038-1107045
38	POLR2A	chr4:1107104-1107707	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr4:1107219-1107548	GM12878	blood:	n/a	n/a
40	POLR2A	chr4:1107152-1107556	A549	lung:	n/a	n/a
41	SMC3	chr4:1107234-1107534	Hela-S3	cervix:	n/a	n/a
42	TCF12	chr4:1107021-1107637	A549	lung:	n/a	n/a
43	CHD2	chr4:1107172-1107723	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr4:1107246-1107575	A549	lung:	n/a	n/a
45	MAX	chr4:1106901-1107793	H1-hESC	embryonic stem cell:	n/a	chr4:1107035-1107044 chr4:1107645-1107655 chr4:1107755-1107764 chr4:1107037-1107046 chr4:1107038-1107045
46	E2F6	chr4:1106984-1107740	A549	lung:	n/a	chr4:1107351-1107360 chr4:1107568-1107577 chr4:1107402-1107414
47	MAX	chr4:1107018-1107613	H1-hESC	embryonic stem cell:	n/a	chr4:1107035-1107044 chr4:1107037-1107046 chr4:1107038-1107045
48	MAX	chr4:1106921-1107795	H1-hESC	embryonic stem cell:	n/a	chr4:1107035-1107044 chr4:1107645-1107655 chr4:1107755-1107764 chr4:1107037-1107046 chr4:1107038-1107045
49	TAF1	chr4:1107359-1107631	H1-hESC	embryonic stem cell:	n/a	n/a
50	GABPA	chr4:1107039-1107672	H1-hESC	embryonic stem cell:	n/a	chr4:1107375-1107389 chr4:1107568-1107577 chr4:1107347-1107361 chr4:1107352-1107361 chr4:1107350-1107361 chr4:1107378-1107392 chr4:1107350-1107364 chr4:1107570-1107579

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:1103766..1108037-chr4:1241801..1244610,3	K562	blood:
2	chr4:1106466..1109450-chr4:1112409..1114063,2	K562	blood:

Variant related genes	Relation type
ENSG00000251652	TF binding region
RNF212	TF binding region
ENSG00000159692	Chromatin interaction
ENSG00000196810	Chromatin interaction
ENSG00000212458	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10002248	0.97[AFR][1000 genomes]
rs10002437	0.90[AFR][1000 genomes]
rs10027895	0.87[AFR][1000 genomes]
rs10029139	0.89[AFR][1000 genomes]
rs10032349	0.83[EUR][1000 genomes]
rs10032470	0.83[EUR][1000 genomes]
rs10033163	0.85[EUR][1000 genomes]
rs11247974	0.87[AFR][1000 genomes]
rs11728360	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11732057	0.87[AFR][1000 genomes]
rs13119696	0.85[EUR][1000 genomes]
rs13435166	0.81[AFR][1000 genomes]
rs1383660	0.83[EUR][1000 genomes]
rs1481167	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28578449	0.86[AFR][1000 genomes]
rs28855974	0.95[AFR][1000 genomes]
rs2924495	0.83[EUR][1000 genomes]
rs4246683	0.85[EUR][1000 genomes]
rs4246684	0.85[EUR][1000 genomes]
rs4974561	0.83[EUR][1000 genomes]
rs4974569	0.85[EUR][1000 genomes]
rs4974571	0.85[EUR][1000 genomes]
rs4974628	0.83[EUR][1000 genomes]
rs4974637	0.83[EUR][1000 genomes]
rs4974639	0.83[EUR][1000 genomes]
rs4974642	0.83[EUR][1000 genomes]
rs4974643	0.83[EUR][1000 genomes]
rs4974644	0.83[EUR][1000 genomes]
rs588824	0.81[EUR][1000 genomes]
rs589660	0.83[EUR][1000 genomes]
rs616569	0.83[EUR][1000 genomes]
rs619407	0.83[EUR][1000 genomes]
rs620398	0.83[EUR][1000 genomes]
rs632319	0.83[EUR][1000 genomes]
rs633087	0.83[EUR][1000 genomes]
rs633141	0.83[EUR][1000 genomes]
rs633599	0.83[EUR][1000 genomes]
rs646117	0.83[EUR][1000 genomes]
rs647828	0.83[EUR][1000 genomes]
rs648640	0.83[EUR][1000 genomes]
rs649258	0.83[EUR][1000 genomes]
rs649616	0.83[EUR][1000 genomes]
rs6599282	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6599283	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6599284	0.89[AFR][1000 genomes]
rs6599285	0.97[AFR][1000 genomes]
rs661364	0.83[EUR][1000 genomes]
rs6814094	0.83[EUR][1000 genomes]
rs681857	0.83[EUR][1000 genomes]
rs682243	0.83[EUR][1000 genomes]
rs682787	0.83[EUR][1000 genomes]
rs6839768	0.87[EUR][1000 genomes]
rs6840162	0.83[EUR][1000 genomes]
rs73065688	0.93[AFR][1000 genomes]
rs73065696	0.87[AFR][1000 genomes]
rs73065698	0.86[AFR][1000 genomes]
rs73072227	0.80[AMR][1000 genomes]
rs7678661	0.87[AFR][1000 genomes]
rs7679718	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv536980	chr4:827866-1167377	Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv1009619	chr4:901897-1215657	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv1003876	chr4:927509-1191316	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1000381	chr4:927509-1198766	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	esv3339080	chr4:970630-1546223	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
8	nsv1004727	chr4:1015652-1158207	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv536984	chr4:1015652-1158207	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv1005990	chr4:1015652-1167619	Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv1000594	chr4:1045099-1129975	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1001165	chr4:1051512-1129975	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv1012892	chr4:1086871-1176630	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv829835	chr4:1097586-1304239	Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
15	esv3440980	chr4:1105477-1108525	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	esv3374334	chr4:1105777-1108900	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	esv3406336	chr4:1106152-1107750	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	esv3375020	chr4:1106377-1109125	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1104600-1109600	Weak transcription	Fetal Kidney	kidney
2	chr4:1106000-1108400	Active TSS	Hela-S3	cervix
3	chr4:1106200-1108200	Enhancers	Primary B cells from peripheral blood	blood
4	chr4:1106400-1108000	Active TSS	Ovary	ovary
5	chr4:1107000-1107400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr4:1107000-1107400	Active TSS	Lung	lung
7	chr4:1107000-1107600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr4:1107000-1107600	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
9	chr4:1107000-1107600	Bivalent/Poised TSS	Adipose Nuclei	Adipose
10	chr4:1107000-1107600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
11	chr4:1107000-1107600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
12	chr4:1107000-1107600	Bivalent/Poised TSS	HSMM	muscle
13	chr4:1107000-1107800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr4:1107000-1107800	Active TSS	Small Intestine	intestine
15	chr4:1107000-1107800	Bivalent/Poised TSS	Thymus	Thymus
16	chr4:1107000-1107800	Active TSS	A549	lung
17	chr4:1107000-1108000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:1107000-1108200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr4:1107000-1108200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr4:1107000-1108200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:1107000-1108200	Active TSS	Fetal Brain Female	brain
22	chr4:1107000-1108200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
23	chr4:1107000-1108400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:1107000-1108400	Active TSS	Osteobl	bone
25	chr4:1107000-1108600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr4:1107200-1107400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
27	chr4:1107200-1107400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:1107200-1107400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:1107200-1107400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr4:1107200-1107400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:1107200-1107400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr4:1107200-1107400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr4:1107200-1107400	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr4:1107200-1107400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:1107200-1107400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:1107200-1107400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
37	chr4:1107200-1107400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr4:1107200-1107400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
39	chr4:1107200-1107400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
40	chr4:1107200-1107400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
41	chr4:1107200-1107400	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
42	chr4:1107200-1107400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
43	chr4:1107200-1107400	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr4:1107200-1107400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
45	chr4:1107200-1107400	Flanking Bivalent TSS/Enh	Spleen	Spleen
46	chr4:1107200-1107400	Flanking Active TSS	HUVEC	blood vessel
47	chr4:1107200-1107400	Flanking Active TSS	NHDF-Ad	bronchial
48	chr4:1107200-1107600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:1107200-1107600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:1107200-1107600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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