Variant report

Variant	rs7569485
Chromosome Location	chr2:9738774-9738775
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9735508..9738809-chr2:9769718..9772514,3	MCF-7	breast:
2	chr2:9731942..9734354-chr2:9738501..9740007,2	K562	blood:
3	chr2:9737361..9739506-chr2:9769982..9772140,2	K562	blood:

Variant related genes	Relation type
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10169269	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10210225	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10929590	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1111976	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11674769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11674777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11887863	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11890807	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11902264	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12476008	1.00[JPT][hapmap]
rs12692388	0.92[ASW][hapmap];1.00[CEU][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13415136	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16867062	1.00[JPT][hapmap]
rs16867074	1.00[JPT][hapmap]
rs2357157	0.91[ASN][1000 genomes]
rs3791748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3951115	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4668625	1.00[YRI][hapmap]
rs4669400	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62119427	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6432018	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6432019	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6432020	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6432023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6432024	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6432025	0.89[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.88[YRI][hapmap];0.91[ASN][1000 genomes]
rs6706227	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6734469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6745213	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7556678	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7556757	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7558086	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7565646	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7596929	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7597961	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers 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 miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv214045	chr2:9734039-9742991	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9696800-9767600	Weak transcription	Gastric	stomach
2	chr2:9719200-9747800	Weak transcription	Lung	lung
3	chr2:9723800-9739800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:9726000-9739800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:9728400-9739400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:9728600-9739200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:9728800-9739200	Weak transcription	Colonic Mucosa	Colon
8	chr2:9732200-9739000	Weak transcription	Liver	Liver
9	chr2:9732200-9739400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:9732200-9739400	Weak transcription	Psoas Muscle	Psoas
11	chr2:9732400-9747600	Weak transcription	Placenta	Placenta
12	chr2:9732600-9738800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:9734000-9748000	Weak transcription	Pancreas	Pancrea
14	chr2:9734600-9748000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:9735000-9739400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:9735200-9738800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:9735200-9739200	Weak transcription	Brain Angular Gyrus	brain
18	chr2:9735200-9739200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:9735200-9748400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:9735400-9739200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:9735400-9739400	Weak transcription	Adipose Nuclei	Adipose
22	chr2:9735400-9739400	Weak transcription	Brain Anterior Caudate	brain
23	chr2:9735400-9739800	Weak transcription	Brain Substantia Nigra	brain
24	chr2:9735400-9748000	Weak transcription	Aorta	Aorta
25	chr2:9735400-9748000	Weak transcription	Spleen	Spleen
26	chr2:9735600-9739400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:9735600-9748400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:9735800-9747600	Weak transcription	Stomach Mucosa	stomach
29	chr2:9735800-9748200	Weak transcription	Ovary	ovary
30	chr2:9736000-9739400	Weak transcription	NHEK	skin
31	chr2:9736200-9739800	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:9737000-9739000	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:9737000-9739400	Weak transcription	HUVEC	blood vessel
34	chr2:9737000-9739400	Weak transcription	NHLF	lung
35	chr2:9737000-9742600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:9737000-9747800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:9737000-9748000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr2:9737200-9738800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr2:9737200-9739400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr2:9737200-9739400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:9737200-9739400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:9737200-9740000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr2:9737200-9740400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:9737200-9740800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:9737200-9742400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:9737200-9747400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:9737200-9748000	Weak transcription	Small Intestine	intestine
48	chr2:9737400-9739000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:9737400-9739200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr2:9737400-9739400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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