Variant report

Variant	rs4615461
Chromosome Location	chr7:5039493-5039494
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5031604..5035629-chr7:5037027..5040634,3	K562	blood:
2	chr7:4922717..4924691-chr7:5037382..5040289,2	K562	blood:
3	chr7:5034129..5035705-chr7:5039134..5041583,2	K562	blood:

Variant related genes	Relation type
ENSG00000196204	Chromatin interaction
ENSG00000157927	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10269405	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10951752	0.91[ASN][1000 genomes]
rs12667431	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28401649	0.82[ASN][1000 genomes]
rs2942561	0.81[AMR][1000 genomes]
rs3087733	0.82[ASN][1000 genomes]
rs4073329	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55730323	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6945927	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6977268	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7782681	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7782832	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7785875	0.82[ASN][1000 genomes]
rs7799275	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9639892	0.82[ASN][1000 genomes]
rs9639895	0.83[ASN][1000 genomes]
rs9639898	0.92[ASN][1000 genomes]
rs9690781	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5014600-5041000	Weak transcription	Stomach Mucosa	stomach
2	chr7:5014800-5040000	Weak transcription	Right Atrium	heart
3	chr7:5014800-5041400	Weak transcription	Fetal Heart	heart
4	chr7:5015800-5041800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:5016000-5042000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:5016600-5040000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:5017800-5045400	Weak transcription	Fetal Brain Male	brain
8	chr7:5018200-5041800	Strong transcription	Dnd41	blood
9	chr7:5022200-5039600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:5023200-5039600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:5023400-5040000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:5023800-5040000	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:5023800-5042200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:5024000-5039600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr7:5024000-5039600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:5024000-5039600	Strong transcription	Stomach Smooth Muscle	stomach
17	chr7:5024000-5040200	Strong transcription	Adipose Nuclei	Adipose
18	chr7:5024200-5040200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:5024400-5039600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:5024400-5040000	Strong transcription	Fetal Muscle Trunk	muscle
21	chr7:5024600-5039600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:5024600-5040400	Strong transcription	Fetal Stomach	stomach
23	chr7:5025400-5047000	Weak transcription	Fetal Kidney	kidney
24	chr7:5025400-5049600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:5029800-5051200	Weak transcription	Psoas Muscle	Psoas
26	chr7:5029800-5059400	Weak transcription	NHDF-Ad	bronchial
27	chr7:5031000-5039600	Strong transcription	Brain Germinal Matrix	brain
28	chr7:5031000-5043400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:5032000-5040200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr7:5033600-5040400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:5034400-5044800	Weak transcription	NH-A	brain
32	chr7:5034800-5044600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:5034800-5044800	Weak transcription	A549	lung
34	chr7:5034800-5045200	Weak transcription	HUVEC	blood vessel
35	chr7:5035000-5041400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:5036000-5051000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:5036600-5064200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr7:5037000-5044600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:5037000-5048600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr7:5037000-5049600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:5037000-5051600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr7:5037000-5054400	Weak transcription	Small Intestine	intestine
43	chr7:5037000-5058600	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:5037200-5050600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:5037200-5050800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:5037200-5059400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr7:5037400-5044600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:5037400-5044600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr7:5037400-5044600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:5037400-5044800	Weak transcription	Colonic Mucosa	Colon

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