Variant report

Variant	rs13239966
Chromosome Location	chr7:8062493-8062494
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:8056984..8058673-chr7:8062180..8063751,2	MCF-7	breast:
2	chr7:8062440..8065234-chr7:8085232..8088218,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11489423	1.00[AMR][1000 genomes]
rs13222222	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13223417	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13223995	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13225545	0.87[ASN][1000 genomes]
rs13237185	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13240196	1.00[AMR][1000 genomes]
rs13240739	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13242904	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13245917	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs34059590	0.87[ASN][1000 genomes]
rs34156160	0.84[ASN][1000 genomes]
rs34318095	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34475980	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34746652	0.87[ASN][1000 genomes]
rs34783749	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34955320	1.00[EUR][1000 genomes]
rs35009545	0.84[ASN][1000 genomes]
rs35044198	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35108922	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35143180	0.87[ASN][1000 genomes]
rs35171936	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35225784	1.00[EUR][1000 genomes]
rs35240411	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35394048	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35509690	0.87[ASN][1000 genomes]
rs35567393	0.84[ASN][1000 genomes]
rs35572840	1.00[EUR][1000 genomes]
rs35627160	1.00[EUR][1000 genomes]
rs35630009	1.00[EUR][1000 genomes]
rs36015287	1.00[EUR][1000 genomes]
rs36022646	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36028057	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58769447	0.95[EUR][1000 genomes]
rs6969431	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs71533384	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71533385	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71533389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71533390	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7800750	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7801299	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7807433	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8036400-8077400	Weak transcription	Right Ventricle	heart
2	chr7:8036600-8064400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:8036600-8064400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:8036600-8074600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:8038000-8066000	Weak transcription	Pancreas	Pancrea
6	chr7:8038400-8066000	Weak transcription	Spleen	Spleen
7	chr7:8041600-8064400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:8041600-8095000	Weak transcription	Gastric	stomach
9	chr7:8041800-8075400	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:8042800-8064400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:8043000-8099200	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:8043600-8068400	Weak transcription	NH-A	brain
13	chr7:8043800-8064400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:8043800-8064600	Weak transcription	Small Intestine	intestine
15	chr7:8044000-8062600	Weak transcription	Fetal Intestine Small	intestine
16	chr7:8044200-8063800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr7:8044200-8066000	Weak transcription	Lung	lung
18	chr7:8044600-8074400	Weak transcription	Brain Angular Gyrus	brain
19	chr7:8044800-8064400	Weak transcription	Aorta	Aorta
20	chr7:8045200-8066000	Weak transcription	Fetal Brain Male	brain
21	chr7:8046800-8062800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:8046800-8064200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:8046800-8064400	Weak transcription	Ovary	ovary
24	chr7:8046800-8066000	Weak transcription	Left Ventricle	heart
25	chr7:8046800-8074400	Weak transcription	Brain Substantia Nigra	brain
26	chr7:8047000-8064000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:8047000-8066000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:8047200-8063800	Weak transcription	Fetal Lung	lung
29	chr7:8047200-8064000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:8047200-8064000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:8047200-8064000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:8047200-8064400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr7:8047200-8065200	Weak transcription	Fetal Kidney	kidney
34	chr7:8047200-8065400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:8047200-8066000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr7:8047200-8066200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr7:8047400-8063400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:8047400-8063400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr7:8047400-8064000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:8047400-8064400	Weak transcription	Fetal Brain Female	brain
41	chr7:8047400-8064400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr7:8047400-8066000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr7:8047400-8066000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr7:8047400-8066000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr7:8047400-8075600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr7:8047600-8064400	Weak transcription	Fetal Muscle Leg	muscle
47	chr7:8047600-8108200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:8048000-8063400	Weak transcription	Fetal Intestine Large	intestine
49	chr7:8048200-8062600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:8048200-8062600	Weak transcription	Fetal Stomach	stomach

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