Variant report

Variant	rs7572257
Chromosome Location	chr2:234337940-234337941
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234337631..234339943-chr2:234342706..234345543,2	K562	blood:
2	chr2:234326124..234329247-chr2:234337323..234339781,4	MCF-7	breast:
3	chr2:234333282..234336244-chr2:234336565..234338970,2	K562	blood:
4	chr2:234326778..234329463-chr2:234337161..234339349,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000077044	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10168794	0.88[CEU][hapmap]
rs10169180	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10178357	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10181039	0.87[EUR][1000 genomes]
rs10183033	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10185923	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10193542	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs10207915	0.82[ASN][1000 genomes]
rs10803653	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10929195	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1097930	1.00[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs1097931	1.00[CHB][hapmap];0.81[CHD][hapmap];0.85[ASN][1000 genomes]
rs11681604	0.95[CHD][hapmap]
rs11888993	0.98[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11892545	0.88[CEU][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes]
rs11897617	0.97[ASN][1000 genomes]
rs1220430	1.00[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap]
rs12473824	1.00[CHB][hapmap]
rs12615446	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs13384932	0.88[CEU][hapmap]
rs13391864	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs13392183	0.84[EUR][1000 genomes]
rs13400471	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13400563	0.82[CEU][hapmap];0.93[EUR][1000 genomes]
rs13403169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406462	1.00[JPT][hapmap];0.96[AFR][1000 genomes]
rs13406655	1.00[JPT][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13414407	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes]
rs13419277	0.87[EUR][1000 genomes]
rs13425849	1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1453321	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1470864	1.00[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs1545525	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs1597940	1.00[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap]
rs2167884	1.00[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap]
rs2167885	0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs2305541	0.83[ASN][1000 genomes]
rs2602387	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs2602389	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2603545	1.00[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2603547	1.00[CHB][hapmap];0.81[CHD][hapmap];0.87[ASN][1000 genomes]
rs28444082	0.87[EUR][1000 genomes]
rs28506837	0.87[EUR][1000 genomes]
rs28588417	0.82[EUR][1000 genomes]
rs2924809	1.00[CHB][hapmap]
rs2924811	0.88[ASN][1000 genomes]
rs2971862	0.88[ASN][1000 genomes]
rs2971863	1.00[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs2971864	0.88[ASN][1000 genomes]
rs2971867	0.88[ASN][1000 genomes]
rs3762591	0.87[EUR][1000 genomes]
rs4233627	0.82[ASN][1000 genomes]
rs59458664	0.85[ASN][1000 genomes]
rs6710645	1.00[CHB][hapmap];0.80[CHD][hapmap];0.82[JPT][hapmap]
rs6713866	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6745134	0.88[CEU][hapmap]
rs6753062	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6756068	1.00[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap]
rs73117507	0.87[EUR][1000 genomes]
rs7422734	0.88[CEU][hapmap]
rs7571288	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7572310	0.81[ASN][1000 genomes]
rs7578898	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7599285	0.82[ASN][1000 genomes]
rs838543	1.00[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs838544	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs838545	0.82[ASN][1000 genomes]
rs838548	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs838549	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs838550	1.00[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs838551	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs838552	1.00[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs838555	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs838559	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1000870	chr2:234333083-234410768	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:234324400-234338400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:234328800-234343000	Weak transcription	Liver	Liver
4	chr2:234329000-234339200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr2:234329000-234343600	Weak transcription	Fetal Brain Female	brain
6	chr2:234329000-234351600	Weak transcription	Fetal Brain Male	brain
7	chr2:234329200-234343800	Weak transcription	Brain Germinal Matrix	brain
8	chr2:234329200-234344600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:234329400-234343200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:234329400-234343400	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:234329400-234344600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr2:234329400-234346000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:234330800-234343200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:234331000-234338000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:234331000-234344000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:234331200-234338200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:234331200-234340400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:234331200-234343400	Weak transcription	Thymus	Thymus
19	chr2:234331200-234344000	Weak transcription	Dnd41	blood
20	chr2:234331200-234344600	Weak transcription	Esophagus	oesophagus
21	chr2:234331600-234338000	Weak transcription	Fetal Thymus	thymus
22	chr2:234331600-234338200	Weak transcription	Adipose Nuclei	Adipose
23	chr2:234331600-234344400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:234332200-234338000	Weak transcription	Pancreas	Pancrea
25	chr2:234332600-234339800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr2:234333200-234343200	Weak transcription	HepG2	liver
27	chr2:234333200-234344000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr2:234333400-234343000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:234333400-234343000	Weak transcription	Colonic Mucosa	Colon
30	chr2:234333400-234343000	Weak transcription	Spleen	Spleen
31	chr2:234333400-234344600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:234333400-234345600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:234333600-234338600	Weak transcription	NHLF	lung
34	chr2:234333600-234339200	Enhancers	Stomach Mucosa	stomach
35	chr2:234333600-234343000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:234333600-234343200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:234333600-234343400	Weak transcription	Lung	lung
38	chr2:234333800-234343800	Weak transcription	Fetal Intestine Large	intestine
39	chr2:234334000-234343400	Weak transcription	Fetal Intestine Small	intestine
40	chr2:234334200-234339800	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr2:234334200-234340200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:234334400-234339400	Enhancers	HSMM	muscle
43	chr2:234334800-234339200	Enhancers	K562	blood
44	chr2:234335000-234338600	Enhancers	Left Ventricle	heart
45	chr2:234335200-234338000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:234335200-234357600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:234335400-234338000	Weak transcription	HUVEC	blood vessel
48	chr2:234335400-234339800	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr2:234335400-234340000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr2:234335600-234338400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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