Variant report

Variant	rs73237135
Chromosome Location	chr2:20841339-20841340
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	RAD21	chr2:20841253-20841667	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr2:20841204-20841577	Hela-S3	cervix:	n/a	n/a
3	STAT3	chr2:20841069-20841568	MCF10A-Er-Src	breast:	n/a	chr2:20841417-20841424
4	E2F4	chr2:20841277-20841619	MCF10A-Er-Src	breast:	n/a	n/a
5	GATA2	chr2:20841124-20841473	HUVEC	blood vessel:	n/a	n/a
6	FOS	chr2:20841143-20841629	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr2:20841279-20841479	MCF10A-Er-Src	breast:	n/a	n/a
8	MYC	chr2:20841206-20841512	MCF10A-Er-Src	breast:	n/a	n/a
9	CEBPB	chr2:20841201-20841486	IMR90	lung:	n/a	n/a
10	SMC3	chr2:20841167-20842673	Hela-S3	cervix:	n/a	chr2:20842109-20842117 chr2:20842329-20842343 chr2:20842329-20842339 chr2:20842110-20842120
11	GATA2	chr2:20841058-20841512	SH-SY5Y	brain:	n/a	n/a
12	SMC3	chr2:20840332-20842911	SK-N-SH	brain:	n/a	chr2:20842109-20842117 chr2:20842710-20842720 chr2:20842329-20842343 chr2:20842329-20842339 chr2:20842110-20842120
13	STAT3	chr2:20841093-20841667	MCF10A-Er-Src	breast:	n/a	chr2:20841417-20841424
14	USF1	chr2:20841085-20841498	SK-N-SH	brain:	n/a	chr2:20841234-20841247
15	GATA3	chr2:20841067-20841576	SK-N-SH	brain:	n/a	n/a
16	FOS	chr2:20841140-20841682	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr2:20841182-20841494	HUVEC	blood vessel:	n/a	n/a
18	MAX	chr2:20841241-20841404	Hela-S3	cervix:	n/a	n/a
19	FOS	chr2:20841104-20841669	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr2:20841170-20841465	MCF10A-Er-Src	breast:	n/a	chr2:20841417-20841424
21	FOS	chr2:20841162-20841492	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr2:20841129-20841626	MCF10A-Er-Src	breast:	n/a	chr2:20841417-20841424

No.	Distal block	Cell Line	Cell type
1	chr2:20602418..20604993-chr2:20841116..20842871,2	K562	blood:
2	chr2:20633992..20655025-chr2:20829429..20854651,127	MCF-7	breast:
3	chr2:20834621..20842195-chr2:20845758..20852616,8	MCF-7	breast:
4	chr2:20834987..20839141-chr2:20839755..20847316,8	K562	blood:
5	chr2:20640108..20658716-chr2:20812153..20855311,258	MCF-7	breast:
6	chr2:20584280..20586232-chr2:20840888..20843722,2	K562	blood:
7	chr2:20784510..20786983-chr2:20839378..20841496,2	MCF-7	breast:
8	chr2:20839547..20841831-chr2:20843514..20846128,3	K562	blood:

Variant related genes	Relation type
HS1BP3	TF binding region
ENSG00000269976	Chromatin interaction
ENSG00000118960	Chromatin interaction
ENSG00000228950	Chromatin interaction
ENSG00000143878	Chromatin interaction
ENSG00000232800	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10176721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10200826	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10201427	1.00[EUR][1000 genomes]
rs10203073	1.00[EUR][1000 genomes]
rs11893093	1.00[EUR][1000 genomes]
rs1437408	1.00[EUR][1000 genomes]
rs16988071	1.00[EUR][1000 genomes]
rs1866043	1.00[EUR][1000 genomes]
rs28488411	0.85[AMR][1000 genomes]
rs28529647	0.85[AMR][1000 genomes]
rs28600892	0.85[AMR][1000 genomes]
rs28642817	0.85[AMR][1000 genomes]
rs340605	1.00[EUR][1000 genomes]
rs340608	1.00[EUR][1000 genomes]
rs340614	1.00[EUR][1000 genomes]
rs548324	1.00[EUR][1000 genomes]
rs553687	1.00[EUR][1000 genomes]
rs55751815	0.85[AMR][1000 genomes]
rs56737091	1.00[EUR][1000 genomes]
rs571566	1.00[EUR][1000 genomes]
rs57494499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57524662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs582107	1.00[EUR][1000 genomes]
rs58590712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58696000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59300971	0.85[AMR][1000 genomes]
rs59771803	0.85[AMR][1000 genomes]
rs59882809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60283906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61478003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs642152	1.00[EUR][1000 genomes]
rs648568	1.00[EUR][1000 genomes]
rs662193	1.00[EUR][1000 genomes]
rs6736533	1.00[EUR][1000 genomes]
rs6759981	1.00[EUR][1000 genomes]
rs73224614	1.00[EUR][1000 genomes]
rs73235054	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73235057	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73235060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73235063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73235064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73235072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73235079	1.00[EUR][1000 genomes]
rs73235100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73237114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73237122	0.91[AFR][1000 genomes]
rs73237147	1.00[EUR][1000 genomes]
rs73919913	0.85[AMR][1000 genomes]
rs73919915	0.85[AMR][1000 genomes]
rs73919918	0.85[AMR][1000 genomes]
rs73919920	0.85[AMR][1000 genomes]
rs73919921	0.85[AMR][1000 genomes]
rs73919922	0.85[AMR][1000 genomes]
rs73919924	0.85[AMR][1000 genomes]
rs7564684	0.85[AMR][1000 genomes]
rs7574045	0.85[AMR][1000 genomes]
rs7574289	0.85[AMR][1000 genomes]
rs7601273	0.85[AMR][1000 genomes]
rs839914	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1008473	chr2:20811359-20879186	Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv535599	chr2:20811359-20879186	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv517472	chr2:20814583-20855176	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv873725	chr2:20814583-20855176	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv527901	chr2:20818458-20876386	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
7	nsv999269	chr2:20824833-20869372	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
8	nsv873726	chr2:20829962-20876260	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
9	nsv873727	chr2:20838318-20876260	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20815000-20847600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:20817400-20847600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:20817600-20850000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:20818800-20842400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:20819000-20847400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:20819400-20847800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:20820600-20849400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:20820800-20849600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:20823000-20842000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:20828600-20841800	Strong transcription	Primary T cells from cord blood	blood
11	chr2:20828800-20847800	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:20832600-20850000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:20833000-20841800	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr2:20833800-20842000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:20833800-20843000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr2:20834400-20842000	Weak transcription	Fetal Thymus	thymus
17	chr2:20834800-20841800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:20834800-20849600	Weak transcription	Small Intestine	intestine
19	chr2:20835400-20841400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:20835400-20849800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:20835600-20842000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:20835600-20847400	Weak transcription	HSMMtube	muscle
23	chr2:20835600-20847600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:20835600-20848800	Weak transcription	Fetal Lung	lung
25	chr2:20835600-20849600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:20835600-20849800	Weak transcription	Fetal Heart	heart
27	chr2:20835800-20843000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:20836000-20841400	Strong transcription	Lung	lung
29	chr2:20836000-20841600	Strong transcription	Spleen	Spleen
30	chr2:20836000-20841800	Strong transcription	Fetal Intestine Large	intestine
31	chr2:20836000-20841800	Strong transcription	Placenta	Placenta
32	chr2:20836000-20841800	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:20836000-20841800	Weak transcription	HMEC	breast
34	chr2:20836000-20842000	Strong transcription	Fetal Intestine Small	intestine
35	chr2:20836000-20847400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:20836000-20847600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr2:20836000-20850000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr2:20836200-20841800	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:20836200-20841800	Weak transcription	Fetal Brain Male	brain
40	chr2:20836200-20842400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:20836200-20846400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:20836600-20841400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr2:20836600-20845600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr2:20836800-20841600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:20836800-20842000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:20837000-20841800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr2:20837000-20842800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
48	chr2:20837200-20841600	Strong transcription	Ovary	ovary
49	chr2:20837200-20841800	Strong transcription	Colonic Mucosa	Colon
50	chr2:20837200-20841800	Strong transcription	Pancreas	Pancrea

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