Variant report

Variant	rs17640472
Chromosome Location	chr7:104813097-104813098
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104807148..104809594-chr7:104811696..104814300,3	K562	blood:
2	chr7:104807148..104809035-chr7:104811696..104814042,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1010340	0.92[CEU][hapmap]
rs1029596	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs10953475	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs11981882	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs12154942	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12155351	0.96[CEU][hapmap]
rs12532134	0.92[CEU][hapmap]
rs12532188	1.00[CEU][hapmap]
rs12534381	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12536794	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12537196	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12538590	0.96[CEU][hapmap]
rs1468359	0.96[CEU][hapmap]
rs1558048	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs17640508	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17640599	0.96[CEU][hapmap]
rs17640623	0.96[CEU][hapmap]
rs17640644	0.96[CEU][hapmap]
rs17707802	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17707878	0.96[CEU][hapmap]
rs2074753	0.96[CEU][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2079340	0.96[CEU][hapmap]
rs2079341	0.96[CEU][hapmap]
rs2097942	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs2299305	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2299309	0.96[CEU][hapmap]
rs2299327	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2299328	0.96[CEU][hapmap]
rs2385557	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3801279	0.96[CEU][hapmap]
rs4406343	0.96[CEU][hapmap]
rs4727618	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6466035	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6466049	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6466051	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs68004394	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6942483	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs6945585	0.96[CEU][hapmap]
rs6949073	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6950104	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6950894	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6954421	0.96[CEU][hapmap]
rs6954844	0.96[CEU][hapmap]
rs6963395	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs6963624	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6963661	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6967753	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6972563	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6974874	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7776832	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7780006	0.96[CEU][hapmap]
rs7782673	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7784126	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs7790653	0.96[CEU][hapmap]
rs7792628	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7794036	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7794285	0.96[CEU][hapmap]
rs7796945	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7802168	0.96[CEU][hapmap]
rs7805928	0.96[CEU][hapmap]
rs7808226	0.96[CEU][hapmap]
rs9918494	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104753800-104822000	Weak transcription	Small Intestine	intestine
2	chr7:104754400-104850400	Weak transcription	Fetal Kidney	kidney
3	chr7:104780000-104818800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:104780200-104818800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:104782600-104814000	Weak transcription	Colonic Mucosa	Colon
6	chr7:104782800-104845600	Weak transcription	Spleen	Spleen
7	chr7:104784400-104818800	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:104787000-104813800	Weak transcription	Right Atrium	heart
9	chr7:104787600-104813400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:104791000-104813800	Weak transcription	Pancreas	Pancrea
11	chr7:104799800-104813800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:104805000-104818600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:104805800-104813800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:104806400-104813800	Weak transcription	Gastric	stomach
15	chr7:104806400-104813800	Weak transcription	Psoas Muscle	Psoas
16	chr7:104806400-104814000	Weak transcription	Right Ventricle	heart
17	chr7:104806400-104819000	Weak transcription	Lung	lung
18	chr7:104806400-104838200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:104806600-104836800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:104806600-104842000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:104807600-104829800	Weak transcription	Thymus	Thymus
22	chr7:104807800-104815000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:104807800-104816400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:104807800-104818800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:104807800-104819800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr7:104808000-104813800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr7:104808000-104815200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:104808000-104819600	Weak transcription	NHEK	skin
29	chr7:104808000-104820600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:104808200-104813800	Weak transcription	Ovary	ovary
31	chr7:104808400-104820600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr7:104808800-104814000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:104808800-104819000	Weak transcription	HepG2	liver
34	chr7:104808800-104822800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:104809000-104813800	Weak transcription	Brain Anterior Caudate	brain
36	chr7:104809000-104819000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr7:104809000-104820400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:104809000-104836600	Weak transcription	HSMM	muscle
39	chr7:104809000-104838800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr7:104809200-104813200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:104809200-104819000	Weak transcription	Adipose Nuclei	Adipose
42	chr7:104809200-104819800	Weak transcription	Primary T cells from cord blood	blood
43	chr7:104809200-104821800	Weak transcription	A549	lung
44	chr7:104809200-104825600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:104809200-104825800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:104809400-104821600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr7:104809600-104814000	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr7:104809600-104814200	Weak transcription	K562	blood
49	chr7:104809600-104818600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:104809600-104818600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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