Variant report

Variant	rs10238507
Chromosome Location	chr7:104807207-104807208
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104807148..104809594-chr7:104811696..104814300,3	K562	blood:
2	chr7:104805022..104807965-chr7:104857264..104859222,2	MCF-7	breast:
3	chr7:104806792..104808535-chr7:104816568..104819196,2	MCF-7	breast:
4	chr7:104807148..104809035-chr7:104811696..104814042,2	K562	blood:
5	chr7:104805654..104807783-chr7:104838268..104840997,2	K562	blood:
6	chr7:104640833..104643034-chr7:104805707..104808413,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10241415	0.94[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap]
rs10257135	0.96[LWK][hapmap]
rs10266871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs10277120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap]
rs10281422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10487150	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10953468	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10953470	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs1142	0.90[CEU][hapmap];0.88[JPT][hapmap];0.85[EUR][1000 genomes]
rs1144	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11760317	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1204056	0.95[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.81[MEX][hapmap];0.98[TSI][hapmap]
rs1204058	1.00[ASW][hapmap];0.95[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.81[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap]
rs1204066	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap]
rs1204077	1.00[ASW][hapmap];0.95[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.81[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap]
rs1204080	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs12334245	1.00[ASW][hapmap];0.95[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.81[MEX][hapmap];0.98[TSI][hapmap]
rs12668040	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs13235033	0.94[JPT][hapmap]
rs13238191	0.94[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap]
rs17721873	0.93[JPT][hapmap]
rs2003506	0.88[EUR][1000 genomes]
rs2040914	0.95[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap]
rs2057883	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2057884	0.82[CEU][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.82[MEX][hapmap];0.98[TSI][hapmap]
rs2192932	0.90[CEU][hapmap];0.89[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];0.93[JPT][hapmap];0.82[MEX][hapmap];0.98[TSI][hapmap]
rs2237612	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs2237613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2237617	0.87[JPT][hapmap]
rs2240463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2299304	0.90[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2299308	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.93[TSI][hapmap]
rs2299319	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap]
rs2385537	0.92[LWK][hapmap]
rs3779210	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap]
rs3801278	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs3801281	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs3801282	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.86[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap]
rs3801285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap]
rs3823752	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs41562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap]
rs41563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap]
rs4730072	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4730073	0.90[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap]
rs4730076	0.96[LWK][hapmap]
rs4730080	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs6466053	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap]
rs6466056	0.82[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.98[TSI][hapmap]
rs6466057	1.00[ASW][hapmap];0.95[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.81[MEX][hapmap];0.98[TSI][hapmap]
rs6943183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs6948885	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6950620	0.90[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6962856	0.95[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs6967587	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7797912	0.90[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7806591	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs917114	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104678000-104812200	Strong transcription	Dnd41	blood
2	chr7:104752800-104807400	Weak transcription	Fetal Brain Male	brain
3	chr7:104753800-104822000	Weak transcription	Small Intestine	intestine
4	chr7:104754400-104850400	Weak transcription	Fetal Kidney	kidney
5	chr7:104777200-104809800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:104778000-104807800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:104780000-104807400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:104780000-104818800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:104780200-104818800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:104782600-104814000	Weak transcription	Colonic Mucosa	Colon
11	chr7:104782800-104845600	Weak transcription	Spleen	Spleen
12	chr7:104784200-104810400	Weak transcription	NHLF	lung
13	chr7:104784400-104818800	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:104786400-104812200	Weak transcription	Fetal Intestine Small	intestine
15	chr7:104787000-104808400	Weak transcription	HepG2	liver
16	chr7:104787000-104813800	Weak transcription	Right Atrium	heart
17	chr7:104787600-104813400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:104791000-104813800	Weak transcription	Pancreas	Pancrea
19	chr7:104793200-104809600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:104796000-104809200	Strong transcription	Primary T cells from cord blood	blood
21	chr7:104796000-104810200	Strong transcription	Fetal Thymus	thymus
22	chr7:104799800-104810000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr7:104799800-104810000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr7:104799800-104811000	Weak transcription	Esophagus	oesophagus
25	chr7:104799800-104813800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:104800000-104809800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:104802000-104810800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr7:104802400-104810200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:104802800-104809200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:104803200-104808400	Strong transcription	Primary hematopoietic stem cells	blood
31	chr7:104803200-104809000	Strong transcription	HSMM	muscle
32	chr7:104803200-104809600	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr7:104803200-104809600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr7:104803200-104809600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:104803200-104809800	Strong transcription	Primary B cells from peripheral blood	blood
36	chr7:104803200-104809800	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr7:104803400-104809600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:104803600-104808000	Strong transcription	Stomach Smooth Muscle	stomach
39	chr7:104803600-104809200	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr7:104803600-104809600	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr7:104803800-104809000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:104803800-104809600	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr7:104803800-104809600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:104803800-104809800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:104803800-104810000	Strong transcription	Fetal Muscle Leg	muscle
46	chr7:104803800-104810200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr7:104804000-104808000	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:104804000-104808200	Strong transcription	Fetal Intestine Large	intestine
49	chr7:104804200-104807600	Strong transcription	Thymus	Thymus
50	chr7:104804200-104808000	Strong transcription	Rectal Mucosa Donor 29	rectum

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