Variant report

Variant	rs10951752
Chromosome Location	chr7:5041757-5041758
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5018855..5021498-chr7:5040650..5043052,2	K562	blood:
2	chr7:5041680..5044510-chr7:5104728..5106771,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10269405	0.89[ASN][1000 genomes]
rs10951753	0.89[AFR][1000 genomes]
rs12667431	0.82[ASN][1000 genomes]
rs3087733	0.88[ASN][1000 genomes]
rs4073329	0.82[ASN][1000 genomes]
rs4615461	0.91[ASN][1000 genomes]
rs55730323	0.92[ASN][1000 genomes]
rs7782681	0.81[ASN][1000 genomes]
rs7782832	0.81[ASN][1000 genomes]
rs7785875	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7799275	0.82[ASN][1000 genomes]
rs9639892	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9639895	0.80[ASN][1000 genomes]
rs9639898	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv8033	chr7:4802287-5086597	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1022678	chr7:4810626-5113387	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv538705	chr7:4810626-5113387	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1021170	chr7:4831361-5058033	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv538706	chr7:4831361-5058033	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1033855	chr7:4862677-5069764	Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
12	nsv1019120	chr7:4929653-5138409	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
13	nsv917078	chr7:4962123-5151633	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
14	nsv525289	chr7:5003373-5083741	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
15	nsv966749	chr7:5036761-5098568	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10951752	RNF216P1	cis	Artery Tibial	GTEx
rs10951752	RNF216P1	cis	Adipose Subcutaneous	GTEx
rs10951752	RNF216P1	cis	Whole Blood	GTEx
rs10951752	RNF216P1	cis	Nerve Tibial	GTEx
rs10951752	RNF216P1	cis	Skin Sun Exposed Lower leg	GTEx
rs10951752	RNF216P1	cis	lung	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5015800-5041800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:5016000-5042000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:5017800-5045400	Weak transcription	Fetal Brain Male	brain
4	chr7:5018200-5041800	Strong transcription	Dnd41	blood
5	chr7:5023800-5042200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:5025400-5047000	Weak transcription	Fetal Kidney	kidney
7	chr7:5025400-5049600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:5029800-5051200	Weak transcription	Psoas Muscle	Psoas
9	chr7:5029800-5059400	Weak transcription	NHDF-Ad	bronchial
10	chr7:5031000-5043400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:5034400-5044800	Weak transcription	NH-A	brain
12	chr7:5034800-5044600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:5034800-5044800	Weak transcription	A549	lung
14	chr7:5034800-5045200	Weak transcription	HUVEC	blood vessel
15	chr7:5036000-5051000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:5036600-5064200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr7:5037000-5044600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:5037000-5048600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:5037000-5049600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:5037000-5051600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:5037000-5054400	Weak transcription	Small Intestine	intestine
22	chr7:5037000-5058600	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:5037200-5050600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:5037200-5050800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:5037200-5059400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:5037400-5044600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr7:5037400-5044600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:5037400-5044600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:5037400-5044800	Weak transcription	Colonic Mucosa	Colon
30	chr7:5037400-5048600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:5037400-5048800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:5037400-5049800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr7:5037600-5043200	Weak transcription	HepG2	liver
34	chr7:5037600-5045400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr7:5037600-5048400	Weak transcription	Ovary	ovary
36	chr7:5037600-5048400	Weak transcription	Hela-S3	cervix
37	chr7:5037600-5048600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:5037600-5048600	Weak transcription	Left Ventricle	heart
39	chr7:5037600-5050600	Weak transcription	Aorta	Aorta
40	chr7:5037600-5062000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr7:5037600-5064800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:5037800-5044600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:5037800-5046400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr7:5037800-5050400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr7:5038000-5044600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr7:5038000-5045600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr7:5038000-5048000	Weak transcription	HSMM	muscle
48	chr7:5038000-5051800	Weak transcription	K562	blood
49	chr7:5038000-5061400	Weak transcription	HSMMtube	muscle
50	chr7:5038200-5042400	Weak transcription	GM12878-XiMat	blood

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