Variant report

Variant	rs35684337
Chromosome Location	chr1:226074436-226074437
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:226074210-226074524	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:226074408-226074458	H1-hESC	embryonic stem cell:	embryo
2	chr1:226074408-226074458	AG04450	lung:	fetal
3	chr1:226074408-226074458	HCT-116	colon:	n/a
4	chr1:226074408-226074458	NHBE	bronchial:	n/a
5	chr1:226074408-226074458	GM06990	blood:	n/a
6	chr1:226074408-226074458	GM12878	blood:	n/a
7	chr1:226074408-226074458	IMR90	lung:	fetal
8	chr1:226074408-226074458	MCF10A-Er-Src	breast:	n/a
9	chr1:226074408-226074458	BE2_C	brain:	n/a
10	chr1:226074408-226074458	HRE	kidney:	n/a
11	chr1:226074408-226074458	ovcar-3	ovarian:	n/a
12	chr1:226074408-226074458	PANC-1	pancreas:	n/a
13	chr1:226074408-226074458	PrEC	prostate:	n/a
14	chr1:226074408-226074458	ProgFib	skin:	n/a
15	chr1:226074408-226074458	A549	lung:	n/a
16	chr1:226074408-226074458	K562	blood:	n/a
17	chr1:226074408-226074458	HEK293	kidney:	embryo
18	chr1:226074408-226074458	HUVEC	blood vessel:	n/a
19	chr1:226074408-226074458	RPTEC	kidney:	n/a
20	chr1:226074408-226074458	SK-N-SH_RA	brain:	n/a
21	chr1:226074408-226074458	HAEpiC	amniotic membrane:	n/a
22	chr1:226074408-226074458	PFSK-1	brain:	n/a
23	chr1:226074408-226074458	U87	brain:	n/a
24	chr1:226074408-226074458	AG10803	skin:	n/a
25	chr1:226074408-226074458	Hela-S3	cervix:	n/a
26	chr1:226074408-226074458	HCF	heart:	n/a
27	chr1:226074408-226074458	HNPCEpiC	eye:	n/a
28	chr1:226074408-226074458	SKMC	muscle:	n/a
29	chr1:226074408-226074458	GM12891	blood:	n/a
30	chr1:226074408-226074458	Hepatocyte	liver:	n/a
31	chr1:226074408-226074458	GM12892	blood:	n/a
32	chr1:226074408-226074458	AoSMC	blood vessel:	n/a
33	chr1:226074408-226074458	Caco-2	colon:	n/a
34	chr1:226074408-226074458	GM19239	blood:	n/a
35	chr1:226074408-226074458	HL-60	blood:	n/a
36	chr1:226074408-226074458	AG04449	skin:	fetal
37	chr1:226074408-226074458	HepG2	liver:	n/a
38	chr1:226074408-226074458	NB4	blood:	n/a
39	chr1:226074408-226074458	Jurkat	blood:	n/a
40	chr1:226074408-226074458	CMK	blood:	n/a
41	chr1:226074408-226074458	AG09309	skin:	n/a
42	chr1:226074408-226074458	AG09319	gingival:	n/a
43	chr1:226074408-226074458	BJ	skin:	n/a
44	chr1:226074408-226074458	HEEpiC	esophagus:	n/a
45	chr1:226074408-226074458	NHDF-neo	bronchial:	n/a
46	chr1:226074408-226074458	SK-N-MC	brain:	n/a
47	chr1:226074408-226074458	SK-N-SH	brain:	n/a
48	chr1:226074408-226074458	LNCaP	prostate:	n/a
49	chr1:226074408-226074458	NH-A	brain:	n/a
50	chr1:226074408-226074458	HMEC	breast:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226061864..226068048-chr1:226072871..226078674,7	MCF-7	breast:
2	chr1:226072637..226074788-chr1:226108524..226110197,2	MCF-7	breast:
3	chr1:226069159..226072331-chr1:226072580..226074899,5	MCF-7	breast:
4	chr1:226074111..226075714-chr1:226076686..226078663,2	MCF-7	breast:
5	chr1:226068217..226073030-chr1:226073542..226076494,4	K562	blood:
6	chr1:226073428..226075918-chr1:226159575..226161542,2	K562	blood:
7	chr1:226070192..226076477-chr1:226076711..226082534,9	K562	blood:
8	chr1:226073077..226074812-chr1:226081952..226084486,2	K562	blood:
9	chr1:226034812..226037407-chr1:226072394..226075386,2	MCF-7	breast:
10	chr1:226068470..226072541-chr1:226072642..226075761,8	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM63A	TF binding region
TMEM63A	CpG island
ENSG00000196187	Chromatin interaction
ENSG00000143811	Chromatin interaction
ENSG00000243709	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10915886	0.81[AFR][1000 genomes]
rs10915887	0.81[AFR][1000 genomes]
rs10915888	0.81[AFR][1000 genomes]
rs10915890	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10915895	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12061043	0.83[AFR][1000 genomes]
rs12070110	0.81[AFR][1000 genomes]
rs12070816	0.81[AFR][1000 genomes]
rs12071072	0.95[AFR][1000 genomes]
rs12071104	0.95[AFR][1000 genomes]
rs12071413	0.81[AFR][1000 genomes]
rs12074209	0.92[AFR][1000 genomes]
rs12074247	0.92[AFR][1000 genomes]
rs12077562	0.81[AFR][1000 genomes]
rs12077565	0.81[AFR][1000 genomes]
rs12078868	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12079891	0.81[AFR][1000 genomes]
rs12080725	0.81[AFR][1000 genomes]
rs12081742	0.84[AFR][1000 genomes]
rs12082207	0.84[AFR][1000 genomes]
rs12083928	0.81[AFR][1000 genomes]
rs12084714	0.81[AFR][1000 genomes]
rs12091106	0.81[AFR][1000 genomes]
rs12092868	0.89[AMR][1000 genomes]
rs12094548	0.89[AMR][1000 genomes]
rs12097377	0.84[AFR][1000 genomes]
rs35273824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56035614	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs56112955	0.84[AFR][1000 genomes]
rs56231004	0.83[AFR][1000 genomes]
rs58852301	0.81[AFR][1000 genomes]
rs60739570	0.84[AFR][1000 genomes]
rs61304305	0.81[AFR][1000 genomes]
rs74150538	0.81[AFR][1000 genomes]
rs74150539	0.84[AFR][1000 genomes]
rs74150558	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs74150559	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs74150561	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:43 , 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	chr1:226071200-226074600	Weak transcription	Fetal Lung	lung
6	chr1:226071200-226075000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:226071200-226075400	Weak transcription	Ovary	ovary
8	chr1:226071200-226076200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:226071200-226076200	Weak transcription	Fetal Kidney	kidney
10	chr1:226071200-226076200	Weak transcription	A549	lung
11	chr1:226071200-226078200	Weak transcription	Gastric	stomach
12	chr1:226071200-226078200	Weak transcription	HMEC	breast
13	chr1:226071400-226075000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:226071600-226076800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:226071800-226074600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:226071800-226076000	Weak transcription	Right Ventricle	heart
17	chr1:226071800-226076400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:226071800-226076400	Weak transcription	Placenta	Placenta
19	chr1:226071800-226076800	Weak transcription	K562	blood
20	chr1:226071800-226078800	Weak transcription	Primary T cells from cord blood	blood
21	chr1:226072000-226075200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr1:226072000-226076800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr1:226072000-226081200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:226072000-226081600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:226072000-226082000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr1:226073000-226077000	Strong transcription	Right Atrium	heart
27	chr1:226073200-226079800	Enhancers	Liver	Liver
28	chr1:226073800-226074600	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr1:226074000-226074800	Enhancers	Fetal Intestine Large	intestine
30	chr1:226074000-226075200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:226074200-226074600	Genic enhancers	Pancreas	Pancrea
32	chr1:226074200-226074600	Enhancers	Stomach Mucosa	stomach
33	chr1:226074200-226075000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr1:226074200-226075000	Flanking Active TSS	HepG2	liver
35	chr1:226074200-226075200	Enhancers	Fetal Intestine Small	intestine
36	chr1:226074200-226077000	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr1:226074400-226074600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:226074400-226074600	Flanking Active TSS	Colonic Mucosa	Colon
39	chr1:226074400-226074800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
40	chr1:226074400-226075000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
41	chr1:226074400-226075400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:226074400-226076800	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr1:226074400-226077200	Active TSS	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links