Variant report

Variant	rs73395916
Chromosome Location	chr7:99641169-99641170
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99626167..99629081-chr7:99640250..99642340,2	K562	blood:
2	chr7:99641072..99643991-chr7:99644597..99648026,3	K562	blood:
3	chr7:99609453..99615014-chr7:99637646..99644800,9	K562	blood:
4	chr7:99608355..99609979-chr7:99641023..99642646,2	MCF-7	breast:
5	chr7:99635895..99638032-chr7:99640487..99642322,2	MCF-7	breast:
6	chr7:99516079..99518428-chr7:99639507..99641876,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166529	Chromatin interaction
ENSG00000146833	Chromatin interaction
ENSG00000106261	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs4134907	1.00[AMR][1000 genomes]
rs4134908	1.00[AMR][1000 genomes]
rs4134921	1.00[AMR][1000 genomes]
rs56695509	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59991229	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60551236	1.00[AMR][1000 genomes]
rs60594059	1.00[AMR][1000 genomes]
rs73395928	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73395975	1.00[AMR][1000 genomes]
rs73395997	1.00[AMR][1000 genomes]
rs73397503	1.00[AMR][1000 genomes]
rs73411443	0.96[AFR][1000 genomes];1.00[AMR][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	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	nsv469687	chr7:99572543-99755141	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
5	nsv482601	chr7:99572543-99755141	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99631800-99647000	Weak transcription	Colonic Mucosa	Colon
2	chr7:99632600-99646600	Weak transcription	Fetal Heart	heart
3	chr7:99633000-99646600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:99633600-99641800	Weak transcription	Spleen	Spleen
5	chr7:99633600-99646400	Weak transcription	Pancreas	Pancrea
6	chr7:99633600-99646600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:99633600-99646600	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:99633600-99646600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:99633600-99646600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:99633600-99646800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:99633600-99646800	Weak transcription	Psoas Muscle	Psoas
12	chr7:99633600-99647000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:99633800-99646400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:99633800-99646400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:99633800-99646600	Weak transcription	Esophagus	oesophagus
16	chr7:99633800-99646600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:99633800-99647000	Weak transcription	Gastric	stomach
18	chr7:99634000-99646600	Weak transcription	HMEC	breast
19	chr7:99634000-99647000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:99634000-99647000	Weak transcription	Left Ventricle	heart
21	chr7:99634000-99647000	Weak transcription	NHLF	lung
22	chr7:99634200-99646600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:99634200-99647000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:99635000-99642400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr7:99635000-99646600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr7:99635000-99646600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr7:99635000-99646800	Weak transcription	HSMMtube	muscle
28	chr7:99635200-99641800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:99635200-99646800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr7:99635200-99646800	Weak transcription	Hela-S3	cervix
31	chr7:99635200-99646800	Weak transcription	NHDF-Ad	bronchial
32	chr7:99635200-99647000	Weak transcription	Ovary	ovary
33	chr7:99635400-99646000	Weak transcription	Stomach Mucosa	stomach
34	chr7:99635400-99646800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:99635600-99641800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:99635600-99646400	Weak transcription	Fetal Intestine Small	intestine
37	chr7:99635600-99646800	Weak transcription	Thymus	Thymus
38	chr7:99635800-99646600	Weak transcription	Fetal Intestine Large	intestine
39	chr7:99636000-99642200	Weak transcription	NHEK	skin
40	chr7:99636000-99642400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:99636000-99646800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:99636000-99646800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr7:99636200-99641800	Weak transcription	Placenta	Placenta
44	chr7:99636200-99646400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr7:99636200-99646400	Weak transcription	HSMM	muscle
46	chr7:99636200-99646600	Weak transcription	Fetal Kidney	kidney
47	chr7:99636200-99646800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr7:99636200-99646800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:99636200-99646800	Weak transcription	Fetal Brain Female	brain
50	chr7:99636200-99646800	Weak transcription	NH-A	brain

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