Variant report

Variant	rs73050940
Chromosome Location	chr7:8067512-8067513
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	chr7:8063593..8066315-chr7:8067381..8070107,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11972865	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13225545	0.80[AMR][1000 genomes]
rs17508185	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17566854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34001876	1.00[AFR][1000 genomes]
rs35143180	0.80[AMR][1000 genomes]
rs55746128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55832940	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56017154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56073406	0.88[EUR][1000 genomes]
rs56142807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56195338	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67343471	0.87[EUR][1000 genomes]
rs6975218	0.92[EUR][1000 genomes]
rs73049231	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73049238	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73049239	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73049252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73049256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73049270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73049276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73049290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73049293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73049297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73049300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73050915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73050929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73050951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73050956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73050958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73050959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73053544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73053556	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73053562	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73053563	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7804306	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv3346837	chr7:7915187-8068557	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv518779	chr7:8055664-8077359	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv1793794	chr7:8064509-8078802	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8036400-8077400	Weak transcription	Right Ventricle	heart
2	chr7:8036600-8074600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:8041600-8095000	Weak transcription	Gastric	stomach
4	chr7:8041800-8075400	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:8043000-8099200	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:8043600-8068400	Weak transcription	NH-A	brain
7	chr7:8044600-8074400	Weak transcription	Brain Angular Gyrus	brain
8	chr7:8046800-8074400	Weak transcription	Brain Substantia Nigra	brain
9	chr7:8047400-8075600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:8047600-8108200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:8057200-8067600	Weak transcription	Colonic Mucosa	Colon
12	chr7:8058800-8069400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:8059200-8067800	ZNF genes & repeats	GM12878-XiMat	blood
14	chr7:8061200-8070000	Weak transcription	Stomach Mucosa	stomach
15	chr7:8062200-8068000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:8062800-8067600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:8063400-8068000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:8063600-8069000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
19	chr7:8063800-8067600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:8064000-8067600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:8064000-8068000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:8064200-8067600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
23	chr7:8064200-8067800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:8064200-8068000	ZNF genes & repeats	Brain Germinal Matrix	brain
25	chr7:8064400-8068000	ZNF genes & repeats	Fetal Brain Female	brain
26	chr7:8064400-8096200	Weak transcription	NHLF	lung
27	chr7:8065000-8074400	Weak transcription	Aorta	Aorta
28	chr7:8065000-8076800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:8065000-8095000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:8065000-8108600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr7:8066400-8067800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:8066400-8068600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:8066400-8070800	Weak transcription	Dnd41	blood
34	chr7:8066400-8074200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr7:8066400-8074400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:8066400-8074400	Weak transcription	Primary T cells from cord blood	blood
37	chr7:8066400-8074400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:8066400-8074400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:8066400-8074400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr7:8066400-8074600	Weak transcription	Lung	lung
41	chr7:8066400-8075200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr7:8066400-8075200	Weak transcription	Esophagus	oesophagus
43	chr7:8066400-8075600	Weak transcription	Fetal Kidney	kidney
44	chr7:8066400-8090800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:8066400-8096600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr7:8066400-8127600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr7:8066600-8069600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr7:8066600-8075200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr7:8066600-8075200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr7:8066600-8077000	Weak transcription	Fetal Heart	heart

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