Variant report

Variant	rs1949971
Chromosome Location	chr7:80374342-80374343
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80373628..80375544-chr7:80375941..80377836,2	MCF-7	breast:
2	chr7:80351533..80354256-chr7:80372076..80374883,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11768155	0.89[AFR][1000 genomes]
rs12113860	1.00[ASW][hapmap];0.87[GIH][hapmap];0.97[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1527475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1949972	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs2272351	0.90[AFR][1000 genomes]
rs2886792	0.92[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];0.88[LWK][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs3211892	1.00[MEX][hapmap]
rs41486545	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs57727876	1.00[EUR][1000 genomes]
rs59951148	1.00[EUR][1000 genomes]
rs73370826	1.00[EUR][1000 genomes]
rs73370828	1.00[EUR][1000 genomes]
rs73386827	1.00[EUR][1000 genomes]
rs73386843	1.00[EUR][1000 genomes]
rs73386858	1.00[EUR][1000 genomes]
rs73386862	1.00[EUR][1000 genomes]
rs73386865	1.00[EUR][1000 genomes]
rs73386867	1.00[EUR][1000 genomes]
rs73386870	1.00[EUR][1000 genomes]
rs73386873	1.00[EUR][1000 genomes]
rs73386879	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80359400-80378000	Weak transcription	Psoas Muscle	Psoas
2	chr7:80360600-80377800	Weak transcription	Left Ventricle	heart
3	chr7:80363600-80385200	Weak transcription	Fetal Stomach	stomach
4	chr7:80368400-80394800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:80369000-80377600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:80369200-80402200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:80370000-80377800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:80370600-80400400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:80370800-80377800	Weak transcription	Brain Germinal Matrix	brain
10	chr7:80370800-80378000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:80370800-80392200	Weak transcription	Fetal Lung	lung
12	chr7:80370800-80396000	Weak transcription	Aorta	Aorta
13	chr7:80371000-80410000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:80371200-80385200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:80371400-80375000	Genic enhancers	A549	lung
16	chr7:80371400-80381000	Strong transcription	HMEC	breast
17	chr7:80371800-80379000	Weak transcription	Fetal Brain Male	brain
18	chr7:80372000-80392600	Weak transcription	Ovary	ovary
19	chr7:80372400-80377800	Weak transcription	Fetal Brain Female	brain
20	chr7:80372400-80377800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr7:80372400-80381400	Strong transcription	HSMM	muscle
22	chr7:80372400-80401000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:80372600-80377800	Weak transcription	Fetal Intestine Small	intestine
24	chr7:80372600-80377800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr7:80372600-80378000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr7:80372600-80378400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr7:80372800-80396200	Weak transcription	Lung	lung
28	chr7:80373000-80377600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:80373000-80382600	Strong transcription	Osteobl	bone
30	chr7:80373000-80383200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:80373000-80386000	Weak transcription	Right Ventricle	heart
32	chr7:80373200-80375400	Weak transcription	Gastric	stomach
33	chr7:80373400-80377800	Strong transcription	NHDF-Ad	bronchial
34	chr7:80373400-80380800	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr7:80373400-80381000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:80373600-80374600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr7:80373800-80374600	Strong transcription	Adipose Nuclei	Adipose
38	chr7:80373800-80374600	Strong transcription	NH-A	brain
39	chr7:80373800-80374800	Strong transcription	Fetal Muscle Leg	muscle
40	chr7:80373800-80374800	Strong transcription	HSMMtube	muscle
41	chr7:80373800-80377200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:80373800-80396600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:80374000-80374400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr7:80374000-80374600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:80374000-80374600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:80374000-80374600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:80374000-80374600	Strong transcription	Colon Smooth Muscle	Colon
48	chr7:80374000-80374600	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr7:80374000-80374600	Strong transcription	Stomach Smooth Muscle	stomach
50	chr7:80374000-80374800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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