Variant report

Variant	rs13240196
Chromosome Location	chr7:8040514-8040515
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11489423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13239966	1.00[AMR][1000 genomes]
rs34783749	1.00[AMR][1000 genomes]
rs71533389	1.00[AMR][1000 genomes]
rs71533390	1.00[AMR][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	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
6	nsv1020161	chr7:7929384-8047553	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8015000-8045000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:8029200-8043600	Weak transcription	Small Intestine	intestine
3	chr7:8029800-8046400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:8029800-8049000	Weak transcription	Fetal Heart	heart
5	chr7:8033600-8043600	Weak transcription	Primary B cells from cord blood	blood
6	chr7:8035200-8045000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:8036000-8044200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:8036400-8041400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:8036400-8043600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:8036400-8044400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:8036400-8044400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:8036400-8045000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:8036400-8046600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:8036400-8077400	Weak transcription	Right Ventricle	heart
15	chr7:8036600-8040800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:8036600-8044200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr7:8036600-8044600	Weak transcription	Osteobl	bone
18	chr7:8036600-8045600	Weak transcription	Liver	Liver
19	chr7:8036600-8045600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:8036600-8045800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:8036600-8045800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:8036600-8053800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr7:8036600-8057200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr7:8036600-8064400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:8036600-8064400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:8036600-8074600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:8036800-8042800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:8036800-8043200	Weak transcription	Hela-S3	cervix
29	chr7:8036800-8043800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:8036800-8043800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:8036800-8044200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:8036800-8046400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:8037400-8043800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr7:8037400-8044200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr7:8038000-8066000	Weak transcription	Pancreas	Pancrea
36	chr7:8038200-8043600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:8038200-8045800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr7:8038400-8046400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr7:8038400-8066000	Weak transcription	Spleen	Spleen
40	chr7:8039200-8044400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:8039400-8044200	Weak transcription	Thymus	Thymus
42	chr7:8039400-8045200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr7:8039400-8046400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:8039400-8046400	Weak transcription	Left Ventricle	heart
45	chr7:8039400-8046400	Weak transcription	Ovary	ovary
46	chr7:8039600-8043000	Weak transcription	Fetal Thymus	thymus
47	chr7:8039600-8043200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:8039800-8042800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr7:8040000-8046400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:8040400-8043000	Weak transcription	Dnd41	blood

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