Variant report

Variant	rs1233267
Chromosome Location	chr2:190672685-190672686
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190651111..190653686-chr2:190669212..190673503,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1046196	0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1233270	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1233271	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1233273	1.00[CHB][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1233274	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1233286	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13404927	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs1440006	0.82[LWK][hapmap]
rs2544054	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256571	1.00[JPT][hapmap]
rs5742924	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5742949	0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5742955	0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5742962	0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5742965	1.00[EUR][1000 genomes]
rs5742976	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5742991	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5742993	0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5742994	0.81[EUR][1000 genomes]
rs5742997	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5743003	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5743048	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5743067	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs5743090	0.82[EUR][1000 genomes]
rs5743102	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5743130	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs5743164	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5743169	1.00[JPT][hapmap]
rs5743175	1.00[JPT][hapmap]
rs58147864	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60386871	0.82[EUR][1000 genomes]
rs6750293	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73042330	1.00[EUR][1000 genomes]
rs73054335	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73054336	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73054339	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73054342	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs735558	0.82[EUR][1000 genomes]
rs7579156	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3080	chr2:190661654-190706515	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190649800-190675200	Weak transcription	Esophagus	oesophagus
2	chr2:190649800-190713400	Weak transcription	Gastric	stomach
3	chr2:190650000-190688200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:190650200-190673000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:190650200-190673200	Weak transcription	Small Intestine	intestine
6	chr2:190650400-190675800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:190650400-190686800	Weak transcription	Thymus	Thymus
8	chr2:190650400-190688400	Weak transcription	Colonic Mucosa	Colon
9	chr2:190650400-190689800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:190650400-190711400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:190650600-190683200	Weak transcription	Fetal Brain Male	brain
12	chr2:190650600-190688800	Weak transcription	Fetal Heart	heart
13	chr2:190650600-190693200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:190650600-190700400	Weak transcription	Hela-S3	cervix
15	chr2:190650800-190675200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:190651000-190673000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:190651000-190673400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:190651200-190673800	Weak transcription	Brain Germinal Matrix	brain
19	chr2:190653400-190673000	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:190656200-190673000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:190656200-190677800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:190656800-190685000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:190656800-190721000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:190658200-190743800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:190659000-190685000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:190659200-190681200	Weak transcription	Spleen	Spleen
27	chr2:190659800-190686800	Weak transcription	Fetal Stomach	stomach
28	chr2:190659800-190743600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:190661000-190674400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr2:190661200-190673000	Weak transcription	Fetal Intestine Small	intestine
31	chr2:190661400-190717800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr2:190662600-190674600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:190662600-190683000	Weak transcription	Adipose Nuclei	Adipose
34	chr2:190662600-190686800	Weak transcription	Left Ventricle	heart
35	chr2:190662800-190674600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr2:190662800-190719000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr2:190663000-190674600	Weak transcription	Fetal Kidney	kidney
38	chr2:190663000-190682600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr2:190663000-190682800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr2:190663000-190683000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:190663000-190685600	Weak transcription	Brain Anterior Caudate	brain
42	chr2:190663000-190701600	Weak transcription	Psoas Muscle	Psoas
43	chr2:190663000-190712800	Weak transcription	Aorta	Aorta
44	chr2:190663200-190683000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:190663200-190700600	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:190663200-190712400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr2:190663400-190674800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:190663400-190683400	Weak transcription	Brain Hippocampus Middle	brain
49	chr2:190664600-190680000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr2:190664600-190683600	Weak transcription	Brain Cingulate Gyrus	brain

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