Variant report

Variant	rs217836
Chromosome Location	chr5:37379087-37379088
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	MAX	chr5:37379032-37379476	HCT-116	colon:	n/a	n/a
2	GABPA	chr5:37379040-37379678	Hela-S3	cervix:	n/a	n/a
3	BCL3	chr5:37379009-37379598	A549	lung:	n/a	n/a
4	GABPA	chr5:37379005-37379477	SK-N-SH	brain:	n/a	n/a
5	FOXM1	chr5:37379024-37379538	GM12878	blood:	n/a	n/a
6	POLR2A	chr5:37378936-37379720	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr5:37379004-37379783	GM12892	blood:	n/a	n/a
8	PAX5	chr5:37379041-37379725	GM12878	blood:	n/a	n/a
9	POLR2A	chr5:37379003-37379637	SK-N-SH	brain:	n/a	n/a
10	FOSL2	chr5:37379082-37379788	HepG2	liver:	n/a	n/a
11	CEBPB	chr5:37379003-37379483	K562	blood:	n/a	n/a
12	SP1	chr5:37379006-37379635	A549	lung:	n/a	chr5:37379247-37379260
13	SP1	chr5:37379059-37379600	GM12878	blood:	n/a	chr5:37379247-37379260
14	MAZ	chr5:37379006-37379541	IMR90	lung:	n/a	n/a
15	POLR2A	chr5:37379068-37379705	GM18951	blood:	n/a	n/a
16	TAF1	chr5:37379058-37379641	A549	lung:	n/a	n/a
17	TAF1	chr5:37379079-37379758	H1-hESC	embryonic stem cell:	n/a	n/a
18	TEAD4	chr5:37379056-37379532	K562	blood:	n/a	n/a
19	PML	chr5:37379009-37379697	GM12878	blood:	n/a	n/a
20	POLR2A	chr5:37379027-37379612	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr5:37379001-37379417	HCT-116	colon:	n/a	n/a
22	MYBL2	chr5:37379000-37379598	HepG2	liver:	n/a	n/a
23	EGR1	chr5:37379048-37379542	H1-hESC	embryonic stem cell:	n/a	n/a
24	SRF	chr5:37379015-37379555	MCF-7	breast:	n/a	n/a
25	BCL3	chr5:37379056-37379575	A549	lung:	n/a	n/a
26	MXI1	chr5:37378880-37379998	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr5:37378975-37379915	H1-hESC	embryonic stem cell:	n/a	n/a
28	CBX3	chr5:37379023-37379535	HCT-116	colon:	n/a	n/a
29	CTCF	chr5:37379059-37379429	HepG2	liver:	n/a	n/a
30	POLR2A	chr5:37378893-37379896	PFSK-1	brain:	n/a	n/a
31	HCFC1	chr5:37378811-37379854	Hela-S3	cervix:	n/a	n/a
32	TCF12	chr5:37378994-37379659	A549	lung:	n/a	chr5:37379536-37379546
33	BCLAF1	chr5:37379066-37379572	K562	blood:	n/a	n/a
34	ETS1	chr5:37379026-37379583	A549	lung:	n/a	chr5:37379538-37379551 chr5:37379372-37379386 chr5:37379378-37379385
35	POLR2A	chr5:37379039-37379854	GM12892	blood:	n/a	n/a
36	HA-E2F1	chr5:37378976-37379561	MCF-7	breast:	n/a	chr5:37379274-37379285 chr5:37379275-37379282 chr5:37379275-37379282 chr5:37379275-37379282
37	SP1	chr5:37379029-37379624	A549	lung:	n/a	chr5:37379247-37379260
38	ZNF384	chr5:37379022-37379468	GM12878	blood:	n/a	n/a
39	CTCF	chr5:37379045-37379571	A549	lung:	n/a	n/a
40	HEY1	chr5:37379033-37379796	HepG2	liver:	n/a	chr5:37379539-37379554
41	USF1	chr5:37379067-37379559	A549	lung:	n/a	n/a
42	GABPA	chr5:37378981-37379831	A549	lung:	n/a	n/a
43	POLR2A	chr5:37379049-37379677	PANC-1	pancreas:	n/a	n/a
44	ELF1	chr5:37379007-37379728	GM12878	blood:	n/a	chr5:37379574-37379585
45	CTCF	chr5:37379085-37379541	K562	blood:	n/a	n/a
46	POLR2A	chr5:37379047-37379728	HUVEC	blood vessel:	n/a	n/a
47	POLR2A	chr5:37379010-37379758	SK-N-MC	brain:	n/a	n/a
48	ESRRA	chr5:37379015-37379730	GM12878	blood:	n/a	n/a
49	MXI1	chr5:37379027-37379930	IMR90	lung:	n/a	n/a
50	POLR2A	chr5:37379048-37379826	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:37369760..37372730-chr5:37375256..37380889,7	MCF-7	breast:
2	chr5:37370037..37373489-chr5:37377973..37381470,5	K562	blood:
3	chr5:37369538..37373129-chr5:37377393..37380859,4	MCF-7	breast:

Variant related genes	Relation type
WDR70	TF binding region
ENSG00000113569	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12659660	0.81[AMR][1000 genomes]
rs13159507	0.83[AMR][1000 genomes]
rs13184133	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs216377	0.86[AFR][1000 genomes]
rs217776	0.91[AFR][1000 genomes]
rs217790	0.88[AFR][1000 genomes]
rs217841	0.82[AMR][1000 genomes]
rs217842	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2737076	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv881511	chr5:37088627-37552852	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv597823	chr5:37111565-37430365	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv1025988	chr5:37115142-37586211	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking 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	43 gene(s)	inside rSNPs	diseases
8	nsv537727	chr5:37115142-37586211	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv530227	chr5:37157106-37571999	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
10	nsv880839	chr5:37173930-37465126	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
11	nsv948741	chr5:37179341-37582164	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
12	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
13	nsv597824	chr5:37206621-37409579	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
14	nsv597825	chr5:37206621-37430365	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
15	nsv880817	chr5:37239240-37465126	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
16	nsv881492	chr5:37239240-37543121	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
17	nsv880444	chr5:37239240-37556926	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
18	nsv1015983	chr5:37240827-37666601	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
19	nsv1021284	chr5:37264275-37630188	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv1029088	chr5:37285576-37604945	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
21	nsv597844	chr5:37287836-37567851	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
22	nsv881076	chr5:37294473-37479198	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
23	nsv1028058	chr5:37302941-37581735	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	nsv537728	chr5:37302941-37581735	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
25	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
26	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
27	nsv1028054	chr5:37331852-37586211	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
28	nsv537730	chr5:37331852-37586211	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
29	nsv1030797	chr5:37335832-37445040	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
30	nsv471012	chr5:37349895-37545998	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
31	nsv597845	chr5:37369958-37556926	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
32	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
33	nsv968905	chr5:37378041-37390033	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37378600-37380200	Active TSS	Stomach Smooth Muscle	stomach
2	chr5:37378800-37379200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:37378800-37379800	Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr5:37378800-37379800	Active TSS	Primary hematopoietic stem cells	blood
5	chr5:37378800-37379800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:37378800-37379800	Active TSS	Duodenum Mucosa	Duodenum
7	chr5:37378800-37379800	Active TSS	Monocytes-CD14+_RO01746	blood
8	chr5:37378800-37380000	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr5:37378800-37380000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:37378800-37380000	Active TSS	Colon Smooth Muscle	Colon
11	chr5:37378800-37380000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
12	chr5:37378800-37380000	Active TSS	Thymus	Thymus
13	chr5:37378800-37380000	Active TSS	Dnd41	blood
14	chr5:37378800-37380000	Active TSS	Hela-S3	cervix
15	chr5:37378800-37380000	Active TSS	Osteobl	bone
16	chr5:37378800-37380200	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr5:37378800-37380200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:37378800-37380200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:37378800-37380200	Active TSS	Fetal Intestine Large	intestine
20	chr5:37378800-37380200	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr5:37378800-37380200	Active TSS	GM12878-XiMat	blood
22	chr5:37378800-37380200	Active TSS	HSMM	muscle
23	chr5:37379000-37379200	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr5:37379000-37379200	Flanking Active TSS	Fetal Stomach	stomach
25	chr5:37379000-37379200	Flanking Active TSS	Fetal Thymus	thymus
26	chr5:37379000-37379400	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr5:37379000-37379400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr5:37379000-37379400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:37379000-37379400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:37379000-37379400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:37379000-37379400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr5:37379000-37379600	Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr5:37379000-37379800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr5:37379000-37379800	Active TSS	Primary monocytes fromperipheralblood	blood
35	chr5:37379000-37379800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:37379000-37379800	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr5:37379000-37379800	Active TSS	Adipose Nuclei	Adipose
38	chr5:37379000-37379800	Active TSS	Left Ventricle	heart
39	chr5:37379000-37379800	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr5:37379000-37379800	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr5:37379000-37380000	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr5:37379000-37380000	Active TSS	H9 Cell Line	embryonic stem cell
43	chr5:37379000-37380000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:37379000-37380000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr5:37379000-37380000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:37379000-37380000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:37379000-37380000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:37379000-37380000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:37379000-37380000	Active TSS	Primary T cells from cord blood	blood
50	chr5:37379000-37380000	Active TSS	Primary T helper naive cells from peripheral blood	blood

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