Variant report

Variant	rs4852326
Chromosome Location	chr2:74272418-74272419
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	chr2:74211059..74212577-chr2:74271171..74274101,2	MCF-7	breast:
2	chr2:74213257..74214992-chr2:74269851..74272694,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255989	Chromatin interaction
ENSG00000235499	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10164943	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10168249	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10168408	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10168410	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10179742	0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10179967	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10184542	0.84[ASN][1000 genomes]
rs10191539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198884	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10200470	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11126424	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11884748	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11885172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11886928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11898903	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12328927	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713803	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12713804	0.91[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12713805	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12713806	1.00[CEU][hapmap];0.84[CHB][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713808	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12713809	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12713810	0.90[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12988533	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12995468	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs13005103	0.93[EUR][1000 genomes]
rs13006301	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13006407	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13011961	0.93[EUR][1000 genomes]
rs13013211	0.91[EUR][1000 genomes]
rs13014576	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13016198	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs13021880	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13027288	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13027623	0.89[EUR][1000 genomes]
rs13030414	0.89[EUR][1000 genomes]
rs13387010	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13387412	1.00[JPT][hapmap]
rs13396777	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs28450901	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28460865	0.90[ASN][1000 genomes]
rs34136450	0.91[EUR][1000 genomes]
rs34201525	0.90[EUR][1000 genomes]
rs35592918	0.90[EUR][1000 genomes]
rs35609589	0.90[EUR][1000 genomes]
rs3902790	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4073048	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4241260	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4270374	0.82[EUR][1000 genomes]
rs4328662	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4331526	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4338985	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs4364046	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4371381	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4374402	0.90[EUR][1000 genomes]
rs4416242	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4422181	0.83[EUR][1000 genomes]
rs4574138	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4578887	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4621184	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4853003	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4853005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853006	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853009	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60279245	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6546884	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6546885	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6546886	0.95[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6546887	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6546889	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs6706327	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6713313	0.85[EUR][1000 genomes]
rs6714186	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6717896	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs6741544	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6743073	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6745236	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745576	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6745792	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754218	0.95[EUR][1000 genomes]
rs6755711	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6756474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71337722	0.94[EUR][1000 genomes]
rs7560668	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7568898	0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7574306	0.82[ASN][1000 genomes]
rs7584777	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7587991	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7589915	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592749	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7593050	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs7595401	0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7597388	0.93[EUR][1000 genomes]
rs7601526	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606491	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9309478	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv818048	chr2:74225434-74313080	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74231600-74273800	Weak transcription	A549	lung
2	chr2:74240000-74276200	Weak transcription	Hela-S3	cervix
3	chr2:74260000-74273200	Weak transcription	Brain Germinal Matrix	brain
4	chr2:74260200-74272600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:74260200-74273600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:74260800-74278400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:74264600-74273800	Weak transcription	Colonic Mucosa	Colon
8	chr2:74264800-74311000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:74265000-74272600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:74265000-74272600	Weak transcription	Fetal Stomach	stomach
11	chr2:74265000-74272600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:74265000-74272800	Weak transcription	Dnd41	blood
13	chr2:74265000-74300600	Weak transcription	Fetal Brain Male	brain
14	chr2:74265200-74273400	Weak transcription	Liver	Liver
15	chr2:74265200-74273400	Enhancers	K562	blood
16	chr2:74265200-74273600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:74265400-74272600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:74265400-74272600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:74265400-74273600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:74265400-74273800	Weak transcription	NHLF	lung
21	chr2:74265400-74275600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:74265400-74315000	Weak transcription	HUVEC	blood vessel
23	chr2:74265600-74272600	Weak transcription	Esophagus	oesophagus
24	chr2:74265600-74273400	Weak transcription	Adipose Nuclei	Adipose
25	chr2:74265600-74275400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:74265800-74273600	Weak transcription	Left Ventricle	heart
27	chr2:74266000-74272600	Weak transcription	Right Atrium	heart
28	chr2:74266200-74273600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr2:74266400-74287200	Weak transcription	HSMM	muscle
30	chr2:74267600-74273600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:74267800-74273400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:74268200-74272600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:74268400-74273400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:74268600-74273000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:74268600-74273200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr2:74268600-74273200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:74268600-74273400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:74268600-74273400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:74268600-74273400	Weak transcription	Spleen	Spleen
40	chr2:74268600-74273800	Weak transcription	Right Ventricle	heart
41	chr2:74268800-74274800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr2:74269000-74273200	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:74269000-74273200	Weak transcription	Fetal Thymus	thymus
44	chr2:74269000-74273400	Weak transcription	Fetal Brain Female	brain
45	chr2:74269000-74280200	Weak transcription	HSMMtube	muscle
46	chr2:74269000-74300200	Weak transcription	Fetal Kidney	kidney
47	chr2:74269200-74273400	Weak transcription	Thymus	Thymus
48	chr2:74269200-74278000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:74269400-74273000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr2:74269400-74273200	Weak transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links