Variant report

Variant	rs17640623
Chromosome Location	chr7:104913312-104913313
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104902229..104905190-chr7:104911272..104913681,2	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1010340	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs10953475	0.96[CEU][hapmap]
rs12154942	0.92[CEU][hapmap];1.00[YRI][hapmap]
rs12155351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12532134	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12532188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs12534381	0.96[CEU][hapmap];1.00[YRI][hapmap]
rs12536794	0.96[CEU][hapmap]
rs12537196	1.00[CEU][hapmap];0.84[YRI][hapmap]
rs12538590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1468359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1558048	1.00[CEU][hapmap]
rs17270450	0.96[CEU][hapmap];1.00[YRI][hapmap]
rs17640472	0.96[CEU][hapmap]
rs17640508	1.00[CEU][hapmap]
rs17640599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17640644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17707802	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs17707878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2074753	1.00[CEU][hapmap]
rs2079340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2079341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2097942	0.84[CEU][hapmap]
rs2299305	1.00[CEU][hapmap]
rs2299309	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2299327	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs2299328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3801279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs4406343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6466049	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs6466051	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs6942483	0.96[CEU][hapmap]
rs6945585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6949073	1.00[CEU][hapmap]
rs6950104	1.00[CEU][hapmap];0.80[YRI][hapmap]
rs6954421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6954844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6955133	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs6963395	0.85[CEU][hapmap]
rs6963624	1.00[CEU][hapmap]
rs6963661	1.00[CEU][hapmap];0.84[YRI][hapmap]
rs6972563	1.00[CEU][hapmap]
rs6974874	1.00[CEU][hapmap]
rs7776832	1.00[CEU][hapmap];0.84[YRI][hapmap]
rs7780006	1.00[CEU][hapmap];0.90[CHB][hapmap]
rs7782673	1.00[CEU][hapmap];0.80[YRI][hapmap]
rs7784126	0.85[CEU][hapmap]
rs7790653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7792628	0.96[CEU][hapmap];1.00[YRI][hapmap]
rs7794036	0.96[CEU][hapmap]
rs7794285	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs7796945	0.96[CEU][hapmap]
rs7802168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7805928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7808226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 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
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv888928	chr7:104897964-104944847	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1029832	chr7:104905057-105112489	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
12	esv2753646	chr7:104905588-104972800	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104886400-104916600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:104908000-104924600	Weak transcription	Spleen	Spleen
3	chr7:104909400-104918000	Weak transcription	Esophagus	oesophagus
4	chr7:104909400-104918400	Weak transcription	Pancreas	Pancrea
5	chr7:104909600-104916000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr7:104909600-104924200	Weak transcription	Left Ventricle	heart
7	chr7:104910200-104916200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr7:104910200-104917400	Weak transcription	HSMMtube	muscle
9	chr7:104910200-104917800	Weak transcription	NH-A	brain
10	chr7:104910200-104918400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:104910200-104919200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:104910200-104919800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:104910200-104919800	Weak transcription	Aorta	Aorta
14	chr7:104910200-104919800	Weak transcription	Fetal Stomach	stomach
15	chr7:104910200-104919800	Weak transcription	HepG2	liver
16	chr7:104910200-104924400	Weak transcription	Right Ventricle	heart
17	chr7:104910200-104925600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:104910200-104935000	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:104910400-104913400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr7:104910400-104919600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:104910400-104923400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr7:104910600-104918000	Weak transcription	Osteobl	bone
23	chr7:104910600-104919200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:104910600-104919200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:104910600-104919800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:104910600-104919800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:104910600-104923800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr7:104910800-104915200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:104910800-104916200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:104910800-104916600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:104910800-104916600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:104910800-104917000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:104910800-104917200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:104910800-104917800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:104910800-104917800	Weak transcription	NHEK	skin
36	chr7:104910800-104919400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr7:104910800-104919600	Weak transcription	Brain Hippocampus Middle	brain
38	chr7:104910800-104919800	Weak transcription	Fetal Lung	lung
39	chr7:104910800-104921600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr7:104910800-104922000	Weak transcription	Fetal Heart	heart
41	chr7:104910800-104924000	Weak transcription	HSMM	muscle
42	chr7:104910800-104925800	Weak transcription	Fetal Thymus	thymus
43	chr7:104910800-104926000	Weak transcription	Right Atrium	heart
44	chr7:104910800-104929000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr7:104910800-104934400	Weak transcription	Primary T cells from cord blood	blood
46	chr7:104910800-104946000	Weak transcription	Primary B cells from cord blood	blood
47	chr7:104911000-104913600	Enhancers	Dnd41	blood
48	chr7:104911000-104916000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr7:104911400-104934800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr7:104911600-104920600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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