Variant report

Variant	rs2236143
Chromosome Location	chr1:226074985-226074986
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:226074946-226074996	HAEpiC	amniotic membrane:	n/a
2	chr1:226074946-226074996	BJ	skin:	n/a
3	chr1:226074946-226074996	GM12892	blood:	n/a
4	chr1:226074946-226074996	GM19239	blood:	n/a
5	chr1:226074946-226074996	HCPEpiC	choroid plexus:	n/a
6	chr1:226074946-226074996	SK-N-MC	brain:	n/a
7	chr1:226074946-226074996	ECC-1	luminal epithelium:	n/a
8	chr1:226074946-226074996	HL-60	blood:	n/a
9	chr1:226074946-226074996	PANC-1	pancreas:	n/a
10	chr1:226074946-226074996	PFSK-1	brain:	n/a
11	chr1:226074946-226074996	PrEC	prostate:	n/a
12	chr1:226074946-226074996	AG09319	gingival:	n/a
13	chr1:226074946-226074996	NHBE	bronchial:	n/a
14	chr1:226074946-226074996	NT2-D1	testis:	n/a
15	chr1:226074946-226074996	NHDF-neo	bronchial:	n/a
16	chr1:226074946-226074996	RPTEC	kidney:	n/a
17	chr1:226074946-226074996	HNPCEpiC	eye:	n/a
18	chr1:226074946-226074996	AG04450	lung:	fetal
19	chr1:226074946-226074996	CMK	blood:	n/a
20	chr1:226074946-226074996	HMEC	breast:	n/a
21	chr1:226074946-226074996	IMR90	lung:	fetal
22	chr1:226074946-226074996	HepG2	liver:	n/a
23	chr1:226074946-226074996	AG10803	skin:	n/a
24	chr1:226074946-226074996	HEK293	kidney:	embryo
25	chr1:226074946-226074996	SAEC	small airway:	n/a
26	chr1:226074946-226074996	SK-N-SH	brain:	n/a
27	chr1:226074946-226074996	Hela-S3	cervix:	n/a
28	chr1:226074946-226074996	HPAEpiC	pulmonary alveolar:	n/a
29	chr1:226074946-226074996	Jurkat	blood:	n/a
30	chr1:226074946-226074996	LNCaP	prostate:	n/a
31	chr1:226074946-226074996	HEEpiC	esophagus:	n/a
32	chr1:226074946-226074996	HUVEC	blood vessel:	n/a
33	chr1:226074946-226074996	AG09309	skin:	n/a
34	chr1:226074946-226074996	MCF10A-Er-Src	breast:	n/a
35	chr1:226074946-226074996	MCF-7	breast:	n/a
36	chr1:226074946-226074996	GM12878	blood:	n/a
37	chr1:226074946-226074996	T-47D	breast:	n/a
38	chr1:226074946-226074996	U87	brain:	n/a
39	chr1:226074946-226074996	ProgFib	skin:	n/a
40	chr1:226074946-226074996	SK-N-SH_RA	brain:	n/a
41	chr1:226074946-226074996	H1-hESC	embryonic stem cell:	embryo
42	chr1:226074946-226074996	HRCEpiC	kidney:	n/a
43	chr1:226074946-226074996	BE2_C	brain:	n/a
44	chr1:226074946-226074996	GM12891	blood:	n/a
45	chr1:226074946-226074996	SKMC	muscle:	n/a
46	chr1:226074946-226074996	HRPEpiC	eye:	n/a
47	chr1:226074946-226074996	HCM	heart:	n/a
48	chr1:226074946-226074996	HCT-116	colon:	n/a
49	chr1:226074946-226074996	HRE	kidney:	n/a
50	chr1:226074946-226074996	AG04449	skin:	fetal

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226061864..226068048-chr1:226072871..226078674,7	MCF-7	breast:
2	chr1:226074111..226075714-chr1:226076686..226078663,2	MCF-7	breast:
3	chr1:226068217..226073030-chr1:226073542..226076494,4	K562	blood:
4	chr1:226073428..226075918-chr1:226159575..226161542,2	K562	blood:
5	chr1:226070192..226076477-chr1:226076711..226082534,9	K562	blood:
6	chr1:226034812..226037407-chr1:226072394..226075386,2	MCF-7	breast:
7	chr1:226068470..226072541-chr1:226072642..226075761,8	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM63A	CpG island
ENSG00000243709	Chromatin interaction
ENSG00000196187	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10047091	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10158952	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12061043	0.97[EUR][1000 genomes]
rs12071072	0.97[EUR][1000 genomes]
rs12071104	0.97[EUR][1000 genomes]
rs12074209	0.97[EUR][1000 genomes]
rs12074247	0.97[EUR][1000 genomes]
rs12075664	0.87[EUR][1000 genomes]
rs2271544	0.92[EUR][1000 genomes]
rs2292556	0.87[EUR][1000 genomes]
rs2292559	0.87[EUR][1000 genomes]
rs2292561	0.87[EUR][1000 genomes]
rs2292568	0.85[EUR][1000 genomes]
rs28384446	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28384447	0.83[EUR][1000 genomes]
rs28384448	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28384449	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3738050	0.87[EUR][1000 genomes]
rs3738051	0.87[EUR][1000 genomes]
rs3753663	0.87[EUR][1000 genomes]
rs3753666	0.90[EUR][1000 genomes]
rs3753668	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3753670	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766935	0.87[EUR][1000 genomes]
rs3766936	0.87[EUR][1000 genomes]
rs3766937	0.87[EUR][1000 genomes]
rs3766940	0.92[EUR][1000 genomes]
rs3766941	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806257	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806258	0.97[EUR][1000 genomes]
rs41310561	0.97[EUR][1000 genomes]
rs4149227	0.85[EUR][1000 genomes]
rs4149228	0.87[EUR][1000 genomes]
rs4149230	0.87[EUR][1000 genomes]
rs45467394	0.82[EUR][1000 genomes]
rs56231004	0.97[EUR][1000 genomes]
rs56325807	0.87[EUR][1000 genomes]
rs57095220	0.87[EUR][1000 genomes]
rs57932384	0.87[EUR][1000 genomes]
rs59728172	0.87[EUR][1000 genomes]
rs60847271	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60943392	0.87[EUR][1000 genomes]
rs61033712	0.87[EUR][1000 genomes]
rs61227102	0.87[EUR][1000 genomes]
rs61295362	0.87[EUR][1000 genomes]
rs6664740	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74150536	0.87[EUR][1000 genomes]
rs7514448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7516538	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv873231	chr1:226019653-226134471	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv520628	chr1:226026406-226093362	Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	esv3335650	chr1:226074720-226125458	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226071000-226076200	Weak transcription	Small Intestine	intestine
2	chr1:226071000-226076400	Weak transcription	Spleen	Spleen
3	chr1:226071000-226078600	Weak transcription	Lung	lung
4	chr1:226071000-226083600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:226071200-226075000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:226071200-226075400	Weak transcription	Ovary	ovary
7	chr1:226071200-226076200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:226071200-226076200	Weak transcription	Fetal Kidney	kidney
9	chr1:226071200-226076200	Weak transcription	A549	lung
10	chr1:226071200-226078200	Weak transcription	Gastric	stomach
11	chr1:226071200-226078200	Weak transcription	HMEC	breast
12	chr1:226071400-226075000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:226071600-226076800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:226071800-226076000	Weak transcription	Right Ventricle	heart
15	chr1:226071800-226076400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:226071800-226076400	Weak transcription	Placenta	Placenta
17	chr1:226071800-226076800	Weak transcription	K562	blood
18	chr1:226071800-226078800	Weak transcription	Primary T cells from cord blood	blood
19	chr1:226072000-226075200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr1:226072000-226076800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr1:226072000-226081200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:226072000-226081600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:226072000-226082000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr1:226073000-226077000	Strong transcription	Right Atrium	heart
25	chr1:226073200-226079800	Enhancers	Liver	Liver
26	chr1:226074000-226075200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:226074200-226075000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr1:226074200-226075000	Flanking Active TSS	HepG2	liver
29	chr1:226074200-226075200	Enhancers	Fetal Intestine Small	intestine
30	chr1:226074200-226077000	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr1:226074400-226075000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
32	chr1:226074400-226075400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:226074400-226076800	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr1:226074400-226077200	Active TSS	Rectal Smooth Muscle	rectum
35	chr1:226074600-226075200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr1:226074600-226076000	Enhancers	Fetal Lung	lung
37	chr1:226074600-226076000	Weak transcription	Pancreas	Pancrea
38	chr1:226074600-226076200	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr1:226074600-226076200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:226074600-226076600	Weak transcription	Stomach Mucosa	stomach
41	chr1:226074800-226075000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
42	chr1:226074800-226075000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
43	chr1:226074800-226075000	Bivalent Enhancer	Brain Germinal Matrix	brain
44	chr1:226074800-226076800	Weak transcription	Fetal Intestine Large	intestine
45	chr1:226074800-226078800	Enhancers	Fetal Stomach	stomach

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