Variant report

Variant	rs2934962
Chromosome Location	chr17:37820756-37820757
allele	G/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	POLR2A	chr17:37820652-37821347	GM12891	blood:	n/a	n/a
2	MAZ	chr17:37819367-37820899	IMR90	lung:	n/a	chr17:37819743-37819753 chr17:37820491-37820500 chr17:37819965-37819975 chr17:37820490-37820501 chr17:37819889-37819899 chr17:37820492-37820499 chr17:37820490-37820500 chr17:37820489-37820504
3	POLR2A	chr17:37820672-37821486	GM12892	blood:	n/a	n/a
4	POLR2A	chr17:37819835-37822433	K562	blood:	n/a	n/a
5	POLR2A	chr17:37819881-37820866	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr17:37819937-37822773	K562	blood:	n/a	n/a
7	ZNF143	chr17:37820641-37820905	K562	blood:	n/a	n/a
8	BCL3	chr17:37819921-37821125	A549	lung:	n/a	n/a
9	ZBTB7A	chr17:37818112-37820811	ECC-1	luminal epithelium:	n/a	chr17:37818475-37818489
10	POLR2A	chr17:37819920-37822310	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr17:37819928-37825272	K562	blood:	n/a	n/a
12	RCOR1	chr17:37820032-37820868	K562	blood:	n/a	n/a
13	POLR2A	chr17:37820082-37821403	HepG2	liver:	n/a	n/a
14	MAX	chr17:37819872-37820875	A549	lung:	n/a	chr17:37820491-37820500 chr17:37819965-37819975 chr17:37820490-37820501 chr17:37819889-37819899 chr17:37820492-37820499 chr17:37820490-37820500 chr17:37820489-37820504
15	POLR2A	chr17:37820389-37820757	HL-60	blood:	n/a	n/a
16	MAX	chr17:37819894-37820756	ECC-1	luminal epithelium:	n/a	chr17:37820491-37820500 chr17:37819965-37819975 chr17:37820490-37820501 chr17:37820492-37820499 chr17:37820490-37820500 chr17:37820489-37820504
17	POLR2A	chr17:37820426-37820798	GM12878	blood:	n/a	n/a
18	MAX	chr17:37820018-37820871	K562	blood:	n/a	chr17:37820491-37820500 chr17:37820490-37820501 chr17:37820492-37820499 chr17:37820490-37820500 chr17:37820489-37820504
19	ZNF263	chr17:37819971-37821227	HEK293-T-REx	kidney:	n/a	n/a
20	POLR2A	chr17:37820111-37820764	GM12878	blood:	n/a	n/a
21	FOSL2	chr17:37819897-37821284	HepG2	liver:	n/a	n/a
22	POLR2A	chr17:37820745-37821278	PANC-1	pancreas:	n/a	n/a
23	BCL3	chr17:37819865-37821233	A549	lung:	n/a	n/a
24	POLR2A	chr17:37820063-37822456	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:37814865..37817539-chr17:37818088..37820916,2	MCF-7	breast:
2	chr17:37818282..37821110-chr17:37882752..37884709,2	K562	blood:
3	chr17:37820269..37822636-chr17:37824547..37827418,2	MCF-7	breast:
4	chr17:37820151..37821695-chr17:37885037..37886831,2	K562	blood:
5	chr17:37773404..37776321-chr17:37819728..37822241,2	MCF-7	breast:
6	chr17:37777756..37783081-chr17:37819129..37825010,9	K562	blood:
7	chr17:37820097..37822634-chr17:37895456..37897611,2	K562	blood:
8	chr17:37790905..37794856-chr17:37820000..37822270,4	K562	blood:

Variant related genes	Relation type
TCAP	TF binding region
PNMT	TF binding region
ENSG00000141744	Chromatin interaction
ENSG00000141736	Chromatin interaction
ENSG00000131748	Chromatin interaction
ENSG00000214546	Chromatin interaction
ENSG00000131771	Chromatin interaction
ENSG00000141741	Chromatin interaction
ENSG00000141738	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1050293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs15968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934958	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934959	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934960	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934965	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934966	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2941510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2941511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2941512	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2941513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2941514	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2941515	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2941516	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2941523	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2952139	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2952149	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2952150	0.92[EUR][1000 genomes]
rs57837184	0.84[AFR][1000 genomes]
rs59522915	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73294088	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73294092	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73294095	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73294098	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73296106	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73296109	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73308326	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv833442	chr17:37692880-37861291	Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv908205	chr17:37709422-37830900	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv908206	chr17:37709422-37866005	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv833443	chr17:37725640-37882864	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
8	nsv457738	chr17:37770005-37831035	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv574991	chr17:37770005-37831035	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv516757	chr17:37781849-37834541	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
11	esv1792029	chr17:37797757-37886460	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv908213	chr17:37807698-37839493	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
13	nsv528093	chr17:37814080-37866005	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	nsv908214	chr17:37814224-37861833	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv574992	chr17:37818561-37822311	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
16	nsv908215	chr17:37818561-37834541	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37795000-37823800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr17:37803800-37821800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:37810600-37821000	Weak transcription	Fetal Brain Male	brain
4	chr17:37811800-37820800	Strong transcription	Fetal Brain Female	brain
5	chr17:37813000-37820800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr17:37816600-37821600	Enhancers	Psoas Muscle	Psoas
7	chr17:37816800-37820800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr17:37817000-37823000	Weak transcription	GM12878-XiMat	blood
9	chr17:37817200-37821000	Enhancers	Fetal Heart	heart
10	chr17:37817600-37823400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr17:37818000-37821200	Genic enhancers	Esophagus	oesophagus
12	chr17:37818200-37821000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr17:37818200-37823000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr17:37818400-37821800	Weak transcription	Colon Smooth Muscle	Colon
15	chr17:37818400-37823600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr17:37818600-37821000	Genic enhancers	Fetal Intestine Small	intestine
17	chr17:37818600-37821000	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr17:37818600-37821800	Weak transcription	Primary B cells from cord blood	blood
19	chr17:37818600-37822000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr17:37818800-37820800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr17:37818800-37821200	Genic enhancers	Brain Cingulate Gyrus	brain
22	chr17:37818800-37821600	Enhancers	Stomach Mucosa	stomach
23	chr17:37819200-37821000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr17:37819200-37821000	Enhancers	Stomach Smooth Muscle	stomach
25	chr17:37819200-37822000	Enhancers	Colonic Mucosa	Colon
26	chr17:37819200-37822200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr17:37819200-37822200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr17:37819200-37825200	Enhancers	Liver	Liver
29	chr17:37819400-37821000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr17:37819400-37821400	Enhancers	Duodenum Mucosa	Duodenum
31	chr17:37819400-37821400	Enhancers	Fetal Intestine Large	intestine
32	chr17:37819400-37821600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr17:37819400-37822000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr17:37819400-37822000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:37819400-37822000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr17:37819400-37822000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr17:37819400-37822200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr17:37819400-37822200	Enhancers	Placenta	Placenta
39	chr17:37819400-37822600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr17:37819400-37823000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr17:37819400-37823200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr17:37819400-37823200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr17:37819400-37823600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr17:37819600-37820800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr17:37819600-37820800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr17:37819600-37821000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr17:37819600-37821000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr17:37819600-37821600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr17:37819600-37821800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr17:37819600-37821800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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