Variant report

Variant	rs4851149
Chromosome Location	chr2:99337001-99337002
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99336480..99339286-chr2:99347871..99349769,2	MCF-7	breast:
2	chr2:99329459..99332003-chr2:99335709..99337859,2	MCF-7	breast:
3	chr2:99334922..99337052-chr2:99339872..99343548,3	MCF-7	breast:
4	chr2:99334681..99338238-chr2:99344696..99347399,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071073	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10153924	1.00[ASN][1000 genomes]
rs11123753	1.00[ASN][1000 genomes]
rs1399512	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1517679	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1517680	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4850884	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4850886	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4850887	1.00[ASN][1000 genomes]
rs4851148	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4851152	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851155	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851156	1.00[ASN][1000 genomes]
rs4851157	1.00[ASN][1000 genomes]
rs4851158	1.00[ASN][1000 genomes]
rs4851159	1.00[ASN][1000 genomes]
rs67008211	1.00[ASN][1000 genomes]
rs72811067	1.00[ASN][1000 genomes]
rs72811068	1.00[ASN][1000 genomes]
rs72811073	1.00[ASN][1000 genomes]
rs72811074	1.00[ASN][1000 genomes]
rs72811075	1.00[ASN][1000 genomes]
rs72811079	1.00[ASN][1000 genomes]
rs72811084	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv2841	chr2:99296874-99342362	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv535836	chr2:99329084-99353519	Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv535837	chr2:99329084-99358356	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv535838	chr2:99335416-99358356	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99326400-99342600	Weak transcription	Adipose Nuclei	Adipose
2	chr2:99326400-99343600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:99326400-99346400	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:99326600-99340000	Weak transcription	Brain Angular Gyrus	brain
5	chr2:99326800-99342600	Weak transcription	Liver	Liver
6	chr2:99326800-99343800	Weak transcription	Small Intestine	intestine
7	chr2:99329600-99339600	Weak transcription	Right Atrium	heart
8	chr2:99331200-99337400	Weak transcription	HUVEC	blood vessel
9	chr2:99332600-99337200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:99333000-99342800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr2:99333400-99337400	Strong transcription	Duodenum Mucosa	Duodenum
12	chr2:99334000-99339400	Strong transcription	Dnd41	blood
13	chr2:99334200-99343200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr2:99334400-99339400	Weak transcription	Esophagus	oesophagus
15	chr2:99334800-99337200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:99335200-99343600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:99335200-99346600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:99335400-99342800	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:99335400-99343600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:99335600-99339600	Weak transcription	Gastric	stomach
21	chr2:99335600-99343200	Strong transcription	Fetal Thymus	thymus
22	chr2:99335600-99345800	Weak transcription	Right Ventricle	heart
23	chr2:99335800-99339800	Weak transcription	Brain Substantia Nigra	brain
24	chr2:99336200-99337800	ZNF genes & repeats	Fetal Intestine Large	intestine
25	chr2:99336200-99337800	ZNF genes & repeats	Fetal Intestine Small	intestine
26	chr2:99336400-99337200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:99336400-99337600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:99336400-99339000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:99336600-99337200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:99336600-99337200	ZNF genes & repeats	Fetal Brain Female	brain
31	chr2:99336600-99337400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
32	chr2:99336600-99337400	Strong transcription	Brain Hippocampus Middle	brain
33	chr2:99336600-99337600	ZNF genes & repeats	Primary B cells from cord blood	blood
34	chr2:99336600-99337600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:99336600-99337600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:99336600-99337600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
37	chr2:99336600-99337800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chr2:99336600-99337800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:99336600-99337800	Strong transcription	Fetal Kidney	kidney
40	chr2:99336600-99338000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
41	chr2:99336600-99338600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
42	chr2:99336600-99338800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
43	chr2:99336600-99339000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
44	chr2:99336600-99339000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
45	chr2:99336600-99342200	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr2:99336800-99337200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:99336800-99337200	ZNF genes & repeats	Left Ventricle	heart
48	chr2:99336800-99337200	ZNF genes & repeats	Pancreas	Pancrea
49	chr2:99336800-99337200	ZNF genes & repeats	Spleen	Spleen
50	chr2:99336800-99337400	ZNF genes & repeats	Colonic Mucosa	Colon

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