Variant report

Variant	rs236295
Chromosome Location	chr1:94117472-94117473
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:94116546-94117825	K562	blood:	n/a	n/a
2	POLR2A	chr1:94117102-94117830	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:94117261-94117689	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94117141..94121029-chr1:94132853..94136106,3	K562	blood:

Variant related genes	Relation type
BCAR3	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12084853	0.92[CHD][hapmap];1.00[JPT][hapmap]
rs12565999	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12568405	1.00[JPT][hapmap]
rs1618866	0.85[AMR][1000 genomes]
rs17110076	1.00[CEU][hapmap]
rs1740068	0.85[AMR][1000 genomes]
rs1740069	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1772781	1.00[JPT][hapmap]
rs182913	0.85[AMR][1000 genomes]
rs183537	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2295330	1.00[CEU][hapmap]
rs236266	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs236274	0.85[AMR][1000 genomes]
rs236275	0.85[AMR][1000 genomes]
rs236278	0.85[AMR][1000 genomes]
rs236283	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs236292	0.80[ASN][1000 genomes]
rs236293	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs236296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs236300	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs236302	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs236303	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs236304	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs236305	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs236308	0.90[JPT][hapmap]
rs236312	1.00[JPT][hapmap]
rs236313	1.00[JPT][hapmap]
rs236343	0.89[JPT][hapmap]
rs3754200	1.00[EUR][1000 genomes]
rs3767979	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs3767991	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs3767993	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs399649	1.00[JPT][hapmap]
rs423493	1.00[JPT][hapmap]
rs6541380	1.00[CEU][hapmap]
rs6541387	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6674143	1.00[CEU][hapmap]
rs6699020	1.00[CEU][hapmap]
rs6702036	1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap]
rs6704479	1.00[JPT][hapmap]
rs798213	1.00[JPT][hapmap]
rs798214	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94088600-94118800	Weak transcription	Gastric	stomach
2	chr1:94094200-94120400	Weak transcription	Psoas Muscle	Psoas
3	chr1:94095600-94125400	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:94100000-94135800	Weak transcription	Fetal Stomach	stomach
5	chr1:94101600-94128800	Weak transcription	Right Ventricle	heart
6	chr1:94102000-94119800	Weak transcription	HSMMtube	muscle
7	chr1:94102000-94125400	Weak transcription	Fetal Kidney	kidney
8	chr1:94102000-94125600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:94102600-94119200	Weak transcription	Fetal Intestine Small	intestine
10	chr1:94102800-94119000	Weak transcription	Brain Angular Gyrus	brain
11	chr1:94103000-94121800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:94103800-94135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:94104800-94117600	Weak transcription	HepG2	liver
14	chr1:94105000-94118200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:94106400-94126000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:94106800-94118800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:94107200-94125600	Weak transcription	Aorta	Aorta
18	chr1:94107600-94119200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:94107800-94120000	Weak transcription	Primary B cells from cord blood	blood
20	chr1:94108200-94118800	Weak transcription	NHDF-Ad	bronchial
21	chr1:94108200-94119400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:94108400-94119000	Weak transcription	Adipose Nuclei	Adipose
23	chr1:94108400-94119200	Weak transcription	NHLF	lung
24	chr1:94108600-94122200	Weak transcription	HUVEC	blood vessel
25	chr1:94108600-94130400	Weak transcription	Esophagus	oesophagus
26	chr1:94110000-94119200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:94110200-94124400	Strong transcription	NHEK	skin
28	chr1:94110800-94120800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:94110800-94127400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:94110800-94128800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr1:94110800-94130200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr1:94111200-94127600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:94111600-94126800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:94111800-94122200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:94111800-94127400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:94112400-94119000	Strong transcription	HSMM	muscle
37	chr1:94112400-94125800	Strong transcription	Hela-S3	cervix
38	chr1:94112400-94127400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:94113000-94122400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:94113800-94124200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:94114600-94125600	Weak transcription	Brain Substantia Nigra	brain
42	chr1:94114800-94119200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:94114800-94120200	Strong transcription	HMEC	breast
44	chr1:94115000-94119200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:94115000-94128800	Weak transcription	Left Ventricle	heart
46	chr1:94115000-94132000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:94116000-94120200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:94116400-94120800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:94116600-94117600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:94116600-94117600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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