Variant report

Variant	rs7634265
Chromosome Location	chr3:133936468-133936469
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133929438..133933511-chr3:133934266..133936727,4	K562	blood:
2	chr3:133935824..133938516-chr3:133939582..133941257,2	MCF-7	breast:
3	chr3:133934428..133936784-chr3:133937861..133939998,2	MCF-7	breast:
4	chr3:133935990..133938237-chr3:133968170..133970657,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163785	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs12493731	0.86[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.87[EUR][1000 genomes]
rs28648514	0.84[EUR][1000 genomes]
rs3913263	1.00[JPT][hapmap]
rs4234422	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4234423	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4234424	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4234426	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4241371	1.00[JPT][hapmap]
rs4408870	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4447762	0.90[AMR][1000 genomes]
rs4470517	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4577436	0.86[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.84[TSI][hapmap];0.87[EUR][1000 genomes]
rs4634087	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs4682655	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682656	0.85[EUR][1000 genomes]
rs4682657	0.90[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs4682665	0.95[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682672	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4854617	0.82[ASW][hapmap];0.85[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.87[TSI][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4854618	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4854619	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4854813	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55688777	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56104814	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56205980	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62271183	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6439459	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6439467	0.91[EUR][1000 genomes]
rs6439470	0.91[CEU][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs6439471	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6439473	0.82[EUR][1000 genomes]
rs6764932	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6779423	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6783989	0.84[EUR][1000 genomes]
rs6787345	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6791361	0.84[EUR][1000 genomes]
rs6795532	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6795658	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6799962	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71807032	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7431604	1.00[CEU][hapmap];0.91[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7433368	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7611104	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7616326	0.84[EUR][1000 genomes]
rs7627059	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7631521	0.94[EUR][1000 genomes]
rs7633386	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7646388	0.81[EUR][1000 genomes]
rs9289461	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9812346	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9843401	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9862959	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9870797	0.86[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs9883217	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs9884008	0.85[EUR][1000 genomes]

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	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7634265	EPHB1	cis	parietal	SCAN
rs7634265	ARMC8	cis	cerebellum	SCAN
rs7634265	IL20RB	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133877800-133950200	Weak transcription	Small Intestine	intestine
2	chr3:133894800-133946800	Weak transcription	Pancreas	Pancrea
3	chr3:133895000-133950000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:133895000-133950200	Weak transcription	Gastric	stomach
5	chr3:133895600-133942800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr3:133909200-133943000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:133919000-133950600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:133919400-133943000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:133919800-133940200	Weak transcription	Esophagus	oesophagus
10	chr3:133920000-133940200	Weak transcription	Fetal Intestine Small	intestine
11	chr3:133920200-133938200	Weak transcription	Fetal Brain Male	brain
12	chr3:133920400-133938600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:133920600-133938400	Weak transcription	HSMMtube	muscle
14	chr3:133920600-133940600	Weak transcription	A549	lung
15	chr3:133920800-133940600	Weak transcription	Thymus	Thymus
16	chr3:133920800-133950200	Weak transcription	Aorta	Aorta
17	chr3:133920800-133950200	Weak transcription	Spleen	Spleen
18	chr3:133920800-133950600	Weak transcription	Hela-S3	cervix
19	chr3:133921600-133937200	Weak transcription	Fetal Stomach	stomach
20	chr3:133921600-133941800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr3:133921800-133943000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr3:133924600-133941800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:133928600-133949400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr3:133930000-133942400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr3:133930000-133950000	Weak transcription	NHDF-Ad	bronchial
26	chr3:133930000-133950400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr3:133930000-133954600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr3:133930200-133937400	Weak transcription	HepG2	liver
29	chr3:133930200-133938000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:133930200-133939800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:133930200-133940600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr3:133930200-133941400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr3:133930200-133941600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr3:133930200-133941800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr3:133930200-133941800	Weak transcription	NH-A	brain
36	chr3:133930200-133942600	Weak transcription	Fetal Thymus	thymus
37	chr3:133930200-133942800	Weak transcription	Left Ventricle	heart
38	chr3:133930200-133946400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr3:133930200-133950000	Weak transcription	HSMM	muscle
40	chr3:133930200-133950200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr3:133930200-133950600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr3:133930200-133955000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr3:133930200-133968000	Weak transcription	Fetal Kidney	kidney
44	chr3:133930400-133938200	Weak transcription	Osteobl	bone
45	chr3:133930400-133938800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr3:133930400-133939200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr3:133930400-133940200	Weak transcription	Brain Germinal Matrix	brain
48	chr3:133930400-133940400	Weak transcription	Placenta	Placenta
49	chr3:133930400-133940600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr3:133930400-133940600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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