Variant report

Variant	rs10215807
Chromosome Location	chr7:6780231-6780232
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10263771	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs10272921	0.82[ASN][1000 genomes]
rs10279319	0.85[ASN][1000 genomes]
rs11770065	0.81[ASN][1000 genomes]
rs12536107	0.89[ASN][1000 genomes]
rs12536632	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34857592	0.87[ASN][1000 genomes]
rs35644498	0.82[ASN][1000 genomes]
rs35768299	0.82[ASN][1000 genomes]
rs3757483	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4724766	0.86[ASN][1000 genomes]
rs60514449	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62439702	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62439703	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62439704	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62439719	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62439720	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62439721	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62439728	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62439731	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62439737	0.80[ASN][1000 genomes]
rs62439738	0.91[ASN][1000 genomes]
rs62439743	0.85[ASN][1000 genomes]
rs6463576	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6969066	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6975002	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6979127	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6979158	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7779296	0.82[ASN][1000 genomes]
rs7784521	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv887439	chr7:6736332-6791749	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv887440	chr7:6743097-6820508	Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv887441	chr7:6744957-6919214	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv1819001	chr7:6746810-6785602	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv966754	chr7:6750289-6838266	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv887442	chr7:6753286-6820508	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv887443	chr7:6753286-6832265	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv887444	chr7:6753286-6855510	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv887445	chr7:6758018-6843722	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv887446	chr7:6758018-6870635	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv887447	chr7:6764583-6843722	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv887448	chr7:6764583-6855510	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv887449	chr7:6764583-6870635	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	esv2757207	chr7:6764583-6977214	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
16	esv2759504	chr7:6764583-6977214	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	nsv887450	chr7:6779270-6919214	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv887451	chr7:6779270-6985071	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6770000-6783400	Weak transcription	Aorta	Aorta
2	chr7:6770200-6782600	Weak transcription	Small Intestine	intestine
3	chr7:6770400-6784800	Weak transcription	NHLF	lung
4	chr7:6770800-6786400	Weak transcription	Fetal Brain Male	brain
5	chr7:6771000-6782000	Strong transcription	Fetal Stomach	stomach
6	chr7:6771000-6786200	Weak transcription	HUVEC	blood vessel
7	chr7:6771000-6786400	Weak transcription	Primary B cells from cord blood	blood
8	chr7:6771200-6781400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr7:6771200-6792400	Weak transcription	NHEK	skin
10	chr7:6771600-6781800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:6771800-6780400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:6771800-6783400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:6772000-6780400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr7:6772000-6780400	Strong transcription	Fetal Thymus	thymus
15	chr7:6772000-6781600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:6772000-6782000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:6772000-6782600	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr7:6772000-6782600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:6772200-6780600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:6772400-6780600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:6772400-6780600	Strong transcription	Placenta	Placenta
22	chr7:6772400-6783200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:6772600-6780400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr7:6772800-6787000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr7:6773000-6783200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr7:6773000-6786400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr7:6773400-6788200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr7:6773600-6784400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:6774000-6782000	Weak transcription	Hela-S3	cervix
30	chr7:6774600-6780400	Strong transcription	Adipose Nuclei	Adipose
31	chr7:6774600-6780400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr7:6775400-6781800	Weak transcription	HMEC	breast
33	chr7:6775800-6785000	Weak transcription	NH-A	brain
34	chr7:6776200-6783200	Weak transcription	Right Ventricle	heart
35	chr7:6777200-6784000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr7:6777200-6784800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr7:6777200-6785000	Weak transcription	HSMM	muscle
38	chr7:6777200-6786600	Weak transcription	HSMMtube	muscle
39	chr7:6777400-6780400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:6777400-6781800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:6777400-6784000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr7:6777400-6784600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:6777400-6784600	Weak transcription	HepG2	liver
44	chr7:6777400-6784800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:6777400-6784800	Weak transcription	Fetal Lung	lung
46	chr7:6777400-6786400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr7:6777400-6786400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr7:6777400-6786600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:6777400-6787000	Weak transcription	Fetal Kidney	kidney
50	chr7:6777400-6788200	Weak transcription	Brain Substantia Nigra	brain

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