Variant report

Variant	rs2237334
Chromosome Location	chr7:26200215-26200216
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:26190370..26193400-chr7:26195972..26200613,6	MCF-7	breast:
2	chr7:26187891..26202612-chr7:26221953..26234536,42	K562	blood:
3	chr7:26194381..26200740-chr7:26239082..26242871,5	K562	blood:
4	chr7:26189963..26195377-chr7:26195444..26205125,17	K562	blood:
5	chr7:26187762..26202698-chr7:26218693..26233402,42	K562	blood:
6	chr7:26191619..26197687-chr7:26199260..26204138,8	MCF-7	breast:
7	chr7:26196217..26197790-chr7:26198735..26200576,2	K562	blood:

Variant related genes	Relation type
ENSG00000050344	Chromatin interaction
ENSG00000122565	Chromatin interaction
ENSG00000122566	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10499573	0.94[EUR][1000 genomes]
rs10951126	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10951127	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11978377	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11979154	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12537093	0.94[EUR][1000 genomes]
rs12539124	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1864241	0.94[EUR][1000 genomes]
rs2070601	0.94[EUR][1000 genomes]
rs2237329	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2237330	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2237332	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2237333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41374744	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4273	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58438239	0.81[EUR][1000 genomes]
rs58914793	0.81[EUR][1000 genomes]
rs6960012	0.88[EUR][1000 genomes]
rs9638832	0.81[EUR][1000 genomes]
rs9639531	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606432	chr7:25988185-26223294	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
2	nsv1019804	chr7:26057723-26214280	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv887849	chr7:26075094-26234302	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers 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	36 gene(s)	inside rSNPs	diseases
4	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
5	nsv1034358	chr7:26142380-26219559	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26194000-26200400	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr7:26195800-26200800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr7:26195800-26201000	Weak transcription	Psoas Muscle	Psoas
4	chr7:26196000-26200800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:26196000-26200800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:26196000-26201400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:26196200-26200400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:26196400-26200400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:26196400-26205800	Weak transcription	Gastric	stomach
10	chr7:26196600-26200600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:26196600-26222000	Weak transcription	Left Ventricle	heart
12	chr7:26196800-26206400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr7:26197000-26201000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:26197400-26210000	Weak transcription	A549	lung
15	chr7:26197600-26206400	Weak transcription	Primary T cells from cord blood	blood
16	chr7:26198000-26200800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr7:26198800-26222000	Weak transcription	Spleen	Spleen
18	chr7:26199200-26200400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:26199200-26205800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:26199200-26206000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:26199200-26206200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr7:26199400-26200400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:26199400-26201400	Genic enhancers	GM12878-XiMat	blood
24	chr7:26199400-26205600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr7:26199400-26205600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr7:26199400-26205600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:26199400-26205800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:26199400-26205800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr7:26199400-26205800	Weak transcription	NHEK	skin
30	chr7:26199400-26206200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:26199400-26222000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:26199400-26230200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:26199600-26201000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:26199600-26201000	Weak transcription	HUVEC	blood vessel
35	chr7:26199600-26205800	Weak transcription	Small Intestine	intestine
36	chr7:26199800-26205600	Weak transcription	Fetal Intestine Small	intestine
37	chr7:26199800-26210400	Weak transcription	Pancreas	Pancrea
38	chr7:26200000-26200800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr7:26200000-26200800	Enhancers	Placenta	Placenta
40	chr7:26200000-26201800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:26200000-26205400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr7:26200000-26205600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:26200000-26205600	Weak transcription	K562	blood
44	chr7:26200000-26205800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:26200000-26205800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:26200000-26206200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:26200000-26227200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:26200200-26200600	Weak transcription	Fetal Thymus	thymus
49	chr7:26200200-26200600	Weak transcription	HepG2	liver
50	chr7:26200200-26205800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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