Variant report

Variant	rs13223995
Chromosome Location	chr7:8048967-8048968
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	chr7:8012721..8014587-chr7:8046373..8049068,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs12702689	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13222222	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13223417	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13225545	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13237185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13239966	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13240739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13242904	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13245917	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34059590	1.00[ASN][1000 genomes]
rs34156160	0.96[ASN][1000 genomes]
rs34318095	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34475980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34746652	1.00[ASN][1000 genomes]
rs34783749	1.00[EUR][1000 genomes]
rs34955320	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35009545	0.96[ASN][1000 genomes]
rs35044198	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35108922	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35143180	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35171936	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35225784	1.00[EUR][1000 genomes]
rs35240411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35394048	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35509690	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35567393	0.96[ASN][1000 genomes]
rs35572840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35627160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35630009	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35641104	0.93[ASN][1000 genomes]
rs36015287	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36022646	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36028057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58769447	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6969431	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6975078	0.88[LWK][hapmap]
rs71533384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71533385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71533389	1.00[EUR][1000 genomes]
rs71533390	1.00[EUR][1000 genomes]
rs7794417	0.82[CHB][hapmap]
rs7800750	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7801299	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][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	nsv1030180	chr7:7860424-8059221	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8029800-8049000	Weak transcription	Fetal Heart	heart
2	chr7:8036400-8077400	Weak transcription	Right Ventricle	heart
3	chr7:8036600-8053800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr7:8036600-8057200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:8036600-8064400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:8036600-8064400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:8036600-8074600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:8038000-8066000	Weak transcription	Pancreas	Pancrea
9	chr7:8038400-8066000	Weak transcription	Spleen	Spleen
10	chr7:8041600-8053800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr7:8041600-8064400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:8041600-8095000	Weak transcription	Gastric	stomach
13	chr7:8041800-8075400	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:8042800-8064400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:8043000-8049400	Strong transcription	Dnd41	blood
16	chr7:8043000-8050600	Strong transcription	GM12878-XiMat	blood
17	chr7:8043000-8051600	Strong transcription	Fetal Thymus	thymus
18	chr7:8043000-8099200	Weak transcription	Colon Smooth Muscle	Colon
19	chr7:8043600-8049400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:8043600-8049600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:8043600-8051800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr7:8043600-8052200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:8043600-8068400	Weak transcription	NH-A	brain
24	chr7:8043800-8049600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:8043800-8064400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr7:8043800-8064600	Weak transcription	Small Intestine	intestine
27	chr7:8044000-8062600	Weak transcription	Fetal Intestine Small	intestine
28	chr7:8044200-8051200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:8044200-8052000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:8044200-8063800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr7:8044200-8066000	Weak transcription	Lung	lung
32	chr7:8044600-8074400	Weak transcription	Brain Angular Gyrus	brain
33	chr7:8044800-8064400	Weak transcription	Aorta	Aorta
34	chr7:8045200-8066000	Weak transcription	Fetal Brain Male	brain
35	chr7:8046600-8050000	Weak transcription	Esophagus	oesophagus
36	chr7:8046600-8051000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr7:8046800-8049800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:8046800-8053400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr7:8046800-8053800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr7:8046800-8054200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr7:8046800-8062800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr7:8046800-8064200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:8046800-8064400	Weak transcription	Ovary	ovary
44	chr7:8046800-8066000	Weak transcription	Left Ventricle	heart
45	chr7:8046800-8074400	Weak transcription	Brain Substantia Nigra	brain
46	chr7:8047000-8062200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr7:8047000-8064000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr7:8047000-8066000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr7:8047200-8049000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr7:8047200-8049800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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