Variant report

Variant	rs61166235
Chromosome Location	chr4:7810354-7810355
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1106248	0.85[ASN][1000 genomes]
rs11933020	0.82[ASN][1000 genomes]
rs12505487	0.85[AFR][1000 genomes]
rs12512093	0.94[AFR][1000 genomes]
rs12512881	0.92[EUR][1000 genomes]
rs16841150	0.82[ASN][1000 genomes]
rs16841268	0.94[AFR][1000 genomes]
rs4074746	0.97[AFR][1000 genomes]
rs41264707	0.97[EUR][1000 genomes]
rs55851047	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56177309	0.94[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs56244096	0.95[EUR][1000 genomes]
rs56264326	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs61562759	0.93[EUR][1000 genomes]
rs73210848	0.93[EUR][1000 genomes]
rs73797315	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1007319	chr4:7705550-7832097	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv537018	chr4:7705550-7832097	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1006642	chr4:7786980-7811291	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
7	esv2763337	chr4:7807183-7811303	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7770800-7828400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:7784000-7821200	Weak transcription	Small Intestine	intestine
3	chr4:7787000-7829400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr4:7791000-7829400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr4:7800600-7828800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr4:7802200-7819800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:7802400-7812400	Weak transcription	Spleen	Spleen
8	chr4:7802600-7810400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr4:7803000-7812400	Weak transcription	Colonic Mucosa	Colon
10	chr4:7804000-7829200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr4:7805200-7822600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:7805600-7810400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:7805600-7816400	Genic enhancers	Fetal Stomach	stomach
14	chr4:7805800-7810600	Enhancers	Ovary	ovary
15	chr4:7806000-7814000	Enhancers	Adipose Nuclei	Adipose
16	chr4:7806200-7819200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:7806400-7824600	Weak transcription	Fetal Thymus	thymus
18	chr4:7807000-7811400	Enhancers	Right Atrium	heart
19	chr4:7807400-7810600	Enhancers	Left Ventricle	heart
20	chr4:7807400-7810600	Enhancers	Right Ventricle	heart
21	chr4:7807800-7811400	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr4:7807800-7817800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr4:7808000-7811400	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr4:7808000-7823000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:7808600-7810600	Genic enhancers	Muscle Satellite Cultured Cells	--
26	chr4:7808600-7810800	ZNF genes & repeats	HMEC	breast
27	chr4:7808600-7812000	ZNF genes & repeats	NHEK	skin
28	chr4:7808600-7814000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr4:7808600-7830000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr4:7808800-7810800	Genic enhancers	HSMM	muscle
31	chr4:7808800-7812600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr4:7808800-7818400	Weak transcription	Psoas Muscle	Psoas
33	chr4:7809000-7811400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:7809200-7810400	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr4:7809200-7810600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr4:7809200-7810800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:7809200-7811200	Weak transcription	HepG2	liver
38	chr4:7809200-7811400	ZNF genes & repeats	NH-A	brain
39	chr4:7809200-7811800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:7809200-7812200	Genic enhancers	Fetal Lung	lung
41	chr4:7809200-7812800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr4:7809200-7813400	Genic enhancers	Fetal Muscle Leg	muscle
43	chr4:7809200-7816600	Weak transcription	Fetal Brain Male	brain
44	chr4:7809400-7810400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:7809400-7810600	ZNF genes & repeats	Placenta	Placenta
46	chr4:7809400-7810600	ZNF genes & repeats	HUVEC	blood vessel
47	chr4:7809400-7810600	ZNF genes & repeats	Osteobl	bone
48	chr4:7809400-7810800	ZNF genes & repeats	Esophagus	oesophagus
49	chr4:7809400-7810800	Strong transcription	Hela-S3	cervix
50	chr4:7809400-7811200	Strong transcription	Placenta Amnion	Placenta Amnion

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