Variant report

Variant	rs7613948
Chromosome Location	chr3:113279698-113279699
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:113277696..113281833-chr3:113284531..113288441,5	MCF-7	breast:
2	chr3:113279187..113281420-chr3:113296138..113298010,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13074313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13092825	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17259475	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17325304	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34486120	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34561841	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3773693	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682491	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6768648	0.82[JPT][hapmap]
rs6808951	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71319373	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7616118	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7623311	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7645464	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1004000	chr3:113116778-113513899	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv877349	chr3:113208224-113323787	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv877350	chr3:113208224-113332235	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113257200-113283400	Weak transcription	Primary B cells from cord blood	blood
2	chr3:113276200-113281400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr3:113276400-113281000	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr3:113276800-113280800	Weak transcription	Gastric	stomach
5	chr3:113276800-113284800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:113276800-113294200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:113277000-113279800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:113277000-113280400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:113277000-113280800	Weak transcription	NHEK	skin
10	chr3:113277400-113281200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr3:113277600-113279800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr3:113277600-113283200	Weak transcription	GM12878-XiMat	blood
13	chr3:113277600-113285600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr3:113278000-113280400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr3:113278000-113281600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr3:113278200-113285200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr3:113278400-113281000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr3:113278400-113281000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:113278600-113280600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr3:113278600-113280800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr3:113278600-113281600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr3:113278800-113280200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr3:113278800-113281000	Enhancers	Primary T cells from cord blood	blood
24	chr3:113278800-113281200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr3:113279000-113280200	Enhancers	Fetal Kidney	kidney
26	chr3:113279000-113280400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:113279000-113280600	Enhancers	Spleen	Spleen
28	chr3:113279000-113280800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:113279000-113281000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr3:113279000-113281200	Enhancers	HMEC	breast
31	chr3:113279200-113280000	Enhancers	Fetal Thymus	thymus
32	chr3:113279200-113280200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:113279200-113280800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:113279200-113280800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr3:113279200-113300000	Weak transcription	Thymus	Thymus
36	chr3:113279400-113280200	Enhancers	Primary hematopoietic stem cells	blood
37	chr3:113279400-113280400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:113279400-113281000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr3:113279600-113280200	Enhancers	HUVEC	blood vessel
40	chr3:113279600-113280600	Enhancers	A549	lung
41	chr3:113279600-113280600	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr3:113279600-113283200	Weak transcription	Primary B cells from peripheral blood	blood

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