Variant report

Variant	rs7674196
Chromosome Location	chr4:110366556-110366557
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110365032..110367988-chr4:110384453..110386346,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10003981	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10005225	1.00[EUR][1000 genomes]
rs10008457	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10009463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10011971	1.00[EUR][1000 genomes]
rs10020652	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10030694	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17040433	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17040466	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17040498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28412073	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28460762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28541279	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28595287	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28597954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28663368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28680423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28723468	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28829974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57705376	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6533431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6533432	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6812917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6834714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6837083	1.00[EUR][1000 genomes]
rs6838597	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6840561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6852062	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6854516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898791	1.00[EUR][1000 genomes]
rs7665738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7667502	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7677736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7681265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7685647	1.00[EUR][1000 genomes]
rs7697001	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9997563	0.82[AMR][1000 genomes];1.00[EUR][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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv1836921	chr4:110354632-110370867	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv1839822	chr4:110354632-110370867	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110357400-110367200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:110357600-110367200	Weak transcription	Fetal Kidney	kidney
3	chr4:110357800-110370600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:110358000-110366800	Weak transcription	Fetal Intestine Large	intestine
5	chr4:110358000-110367200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:110358000-110370600	Weak transcription	Fetal Brain Female	brain
7	chr4:110358000-110372000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:110358000-110384000	Weak transcription	Fetal Brain Male	brain
9	chr4:110358000-110384200	Weak transcription	Colonic Mucosa	Colon
10	chr4:110358600-110378600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:110360400-110384200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:110360600-110367200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr4:110362000-110367200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:110362200-110367200	Weak transcription	Brain Angular Gyrus	brain
15	chr4:110362800-110367200	Weak transcription	Right Ventricle	heart
16	chr4:110363000-110366800	Weak transcription	Fetal Muscle Leg	muscle
17	chr4:110363000-110367000	Weak transcription	Brain Germinal Matrix	brain
18	chr4:110363000-110384200	Weak transcription	Esophagus	oesophagus
19	chr4:110363200-110367200	Weak transcription	Fetal Lung	lung
20	chr4:110363200-110367400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:110363200-110370600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:110363600-110366800	Weak transcription	Ovary	ovary
23	chr4:110363600-110367200	Weak transcription	Brain Substantia Nigra	brain
24	chr4:110363600-110367400	Weak transcription	Gastric	stomach
25	chr4:110363600-110370600	Weak transcription	Spleen	Spleen
26	chr4:110363600-110371000	Weak transcription	Stomach Mucosa	stomach
27	chr4:110363600-110372000	Weak transcription	K562	blood
28	chr4:110363600-110383600	Weak transcription	Pancreas	Pancrea
29	chr4:110363600-110383600	Weak transcription	NHDF-Ad	bronchial
30	chr4:110363600-110384200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:110363600-110384200	Weak transcription	Hela-S3	cervix
32	chr4:110363600-110398400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:110363800-110367200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr4:110363800-110367200	Weak transcription	HSMM	muscle
35	chr4:110363800-110367400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr4:110363800-110367400	Weak transcription	NHLF	lung
37	chr4:110363800-110370800	Weak transcription	HSMMtube	muscle
38	chr4:110364000-110367200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr4:110364200-110367200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr4:110364200-110367200	Weak transcription	HUVEC	blood vessel
41	chr4:110364400-110366800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr4:110364400-110367200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr4:110364400-110367200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:110364600-110366600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr4:110364600-110367000	Weak transcription	HepG2	liver
46	chr4:110364600-110367200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr4:110364600-110367400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr4:110364600-110370800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr4:110364600-110384200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr4:110364800-110366800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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