Variant report

Variant	rs7667909
Chromosome Location	chr4:48754095-48754096
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	chr4:48753245..48755972-chr4:48780060..48782749,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075539	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10433725	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10938540	0.94[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12650202	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1533511	0.87[ASW][hapmap]
rs1546653	1.00[AMR][1000 genomes]
rs1949423	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2056197	1.00[AMR][1000 genomes]
rs2056200	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2138868	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2354313	1.00[AMR][1000 genomes]
rs2354315	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4694901	0.84[AFR][1000 genomes]
rs6845398	1.00[AMR][1000 genomes]
rs7436127	0.94[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7690793	1.00[AMR][1000 genomes]
rs7698064	0.87[ASW][hapmap]
rs776593	0.85[MKK][hapmap]
rs776594	0.85[MKK][hapmap]
rs776597	0.85[MKK][hapmap]
rs938789	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9994214	0.87[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv1792683	chr4:48686817-48764009	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1795181	chr4:48686817-48764009	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1793455	chr4:48686817-48859142	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1010381	chr4:48701525-49309842	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	esv1792281	chr4:48719424-48764009	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv1794245	chr4:48719424-48764009	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv1794757	chr4:48719424-48764009	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv594137	chr4:48748305-48763163	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48731600-48779800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:48742000-48758800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:48742000-48768400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:48742600-48768200	Weak transcription	Pancreas	Pancrea
5	chr4:48745000-48765200	Weak transcription	Primary B cells from cord blood	blood
6	chr4:48747200-48754800	Weak transcription	Fetal Stomach	stomach
7	chr4:48747200-48777200	Weak transcription	Fetal Intestine Small	intestine
8	chr4:48747400-48767800	Weak transcription	Fetal Intestine Large	intestine
9	chr4:48748600-48756400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:48749000-48757200	Weak transcription	Gastric	stomach
11	chr4:48749200-48761400	Weak transcription	Thymus	Thymus
12	chr4:48749200-48768200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:48750000-48754200	Weak transcription	HMEC	breast
14	chr4:48750000-48754200	Weak transcription	NHEK	skin
15	chr4:48750200-48754200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:48751000-48768400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:48751200-48754200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr4:48751400-48758800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:48751600-48754600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr4:48751600-48754800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr4:48751600-48761400	Weak transcription	Dnd41	blood
22	chr4:48751600-48777200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:48751800-48754800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:48751800-48754800	Weak transcription	Aorta	Aorta
25	chr4:48751800-48763800	Weak transcription	Spleen	Spleen
26	chr4:48751800-48763800	Weak transcription	HSMM	muscle
27	chr4:48752000-48754400	Weak transcription	Fetal Heart	heart
28	chr4:48752000-48754800	Weak transcription	Fetal Thymus	thymus
29	chr4:48752000-48754800	Weak transcription	Right Atrium	heart
30	chr4:48752000-48758000	Weak transcription	Left Ventricle	heart
31	chr4:48752000-48758000	Weak transcription	Ovary	ovary
32	chr4:48752000-48760800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:48752000-48762600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr4:48752000-48767000	Weak transcription	Fetal Muscle Leg	muscle
35	chr4:48752400-48755000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:48752400-48758800	Weak transcription	Lung	lung
37	chr4:48752400-48765200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr4:48752600-48754200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:48752600-48755000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr4:48752600-48755400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr4:48752600-48756000	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr4:48752800-48755000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr4:48752800-48755000	Enhancers	Brain Angular Gyrus	brain
44	chr4:48752800-48755200	Enhancers	Brain Substantia Nigra	brain
45	chr4:48752800-48755600	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr4:48752800-48756000	Enhancers	Primary hematopoietic stem cells	blood
47	chr4:48752800-48756200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:48753000-48754200	Enhancers	Brain Germinal Matrix	brain
49	chr4:48753000-48755200	Enhancers	Brain Cingulate Gyrus	brain
50	chr4:48753200-48754200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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