Variant report

Variant	rs6833531
Chromosome Location	chr4:120134154-120134155
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:339)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:339 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:120134139-120134366	GM10248	blood:	n/a	n/a
2	CTCF	chr4:120133830-120134573	IMR90	lung:	n/a	chr4:120134394-120134407
3	MAX	chr4:120133107-120134612	K562	blood:	n/a	chr4:120134284-120134294
4	POLR2A	chr4:120133076-120134706	A549	lung:	n/a	n/a
5	HMGN3	chr4:120133366-120134437	K562	blood:	n/a	n/a
6	YY1	chr4:120134102-120134442	K562	blood:	n/a	n/a
7	POLR2A	chr4:120134055-120134583	HUVEC	blood vessel:	n/a	n/a
8	MAX	chr4:120134127-120134519	K562	blood:	n/a	chr4:120134284-120134294
9	POLR2A	chr4:120133325-120134554	GM19193	blood:	n/a	n/a
10	CTCF	chr4:120134020-120134170	HFF-Myc	foreskin:	n/a	n/a
11	MAX	chr4:120133023-120134662	HepG2	liver:	n/a	chr4:120134284-120134294
12	E2F4	chr4:120133181-120134507	MCF10A-Er-Src	breast:	n/a	chr4:120133619-120133630 chr4:120133570-120133581
13	NR2F2	chr4:120134066-120134468	K562	blood:	n/a	n/a
14	POLR2A	chr4:120133186-120134603	K562	blood:	n/a	n/a
15	CTCF	chr4:120134127-120134439	GM19238	blood:	n/a	chr4:120134394-120134407
16	SIN3A	chr4:120133004-120134727	H1-hESC	embryonic stem cell:	n/a	chr4:120134295-120134303
17	SIN3AK20	chr4:120134041-120134592	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr4:120133067-120134753	ECC-1	luminal epithelium:	n/a	chr4:120134284-120134294
19	CTCF	chr4:120134140-120134290	HRE	kidney:	n/a	n/a
20	EP300	chr4:120134106-120134486	SK-N-SH_RA	brain:	n/a	n/a
21	TEAD4	chr4:120133265-120134646	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr4:120132995-120134680	H1-hESC	embryonic stem cell:	n/a	n/a
23	MXI1	chr4:120133388-120134661	Hela-S3	cervix:	n/a	n/a
24	TAF7	chr4:120133156-120134510	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAFK	chr4:120133344-120134637	K562	blood:	n/a	n/a
26	POLR2A	chr4:120133011-120134696	U87	brain:	n/a	n/a
27	SIN3AK20	chr4:120133187-120134559	SK-N-SH	brain:	n/a	n/a
28	CTCF	chr4:120133779-120134435	Fibrobl	skin:	n/a	chr4:120134394-120134407
29	RAD21	chr4:120134051-120134537	HepG2	liver:	n/a	chr4:120134394-120134408
30	CTCF	chr4:120134090-120134442	GM12891	blood:	n/a	chr4:120134394-120134407
31	POLR2A	chr4:120133015-120134567	K562	blood:	n/a	n/a
32	NFIC	chr4:120133298-120134382	HepG2	liver:	n/a	n/a
33	POLR2A	chr4:120134097-120134495	PANC-1	pancreas:	n/a	n/a
34	MAX	chr4:120133196-120134676	SK-N-SH	brain:	n/a	chr4:120134284-120134294
35	CTCF	chr4:120134145-120134433	MCF-7	breast:	n/a	chr4:120134394-120134407
36	MAX	chr4:120133070-120134676	ECC-1	luminal epithelium:	n/a	chr4:120134284-120134294
37	POLR2A	chr4:120133082-120134624	HepG2	liver:	n/a	n/a
38	CTCF	chr4:120134149-120134406	GM12878	blood:	n/a	n/a
39	FOXM1	chr4:120133694-120134501	GM12878	blood:	n/a	n/a
40	CTCF	chr4:120134122-120134396	A549	lung:	n/a	n/a
41	TFAP2C	chr4:120133400-120134572	Hela-S3	cervix:	n/a	chr4:120134252-120134267
42	POLR2A	chr4:120133279-120134427	GM12878	blood:	n/a	n/a
43	HA-E2F1	chr4:120133184-120134628	MCF-7	breast:	n/a	n/a
44	CEBPB	chr4:120133172-120134560	Hela-S3	cervix:	n/a	n/a
45	MAX	chr4:120133069-120134751	A549	lung:	n/a	chr4:120134284-120134294
46	REST	chr4:120133081-120134679	H1-neurons	neurons:	n/a	n/a
47	POLR2A	chr4:120133130-120134586	ProgFib	skin:	n/a	n/a
48	CTCF	chr4:120134136-120134420	MCF-7	breast:	n/a	chr4:120134394-120134407
49	POLR2A	chr4:120133233-120134453	MCF-7	breast:	n/a	n/a
50	TAF1	chr4:120133150-120134556	PFSK-1	brain:	n/a	n/a

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:120133686..120134675-chr6:86352822..86353423,2	Hela-S3	cervix:
2	chr1:116914863..116916593-chr4:120132823..120134505,2	MCF-7	breast:
3	chr17:56708970..56709652-chr4:120133595..120134204,2	HCT-116	colon:
4	chr3:179280306..179281175-chr4:120133684..120134333,2	Hela-S3	cervix:
5	chr4:120132453..120136158-chr4:120220202..120223113,6	K562	blood:
6	chr4:119988837..119992890-chr4:120132998..120134761,3	MCF-7	breast:
7	chr17:26926109..26926670-chr4:120133824..120134331,2	NB4	blood:
8	chr1:149857991..149858865-chr4:120133698..120134306,2	Hela-S3	cervix:
9	chr4:120133904..120136281-chr4:120160209..120162488,2	K562	blood:
10	chr4:120132319..120136069-chr4:120219720..120222326,6	MCF-7	breast:
11	chr4:119755459..119757778-chr4:120132797..120135484,2	K562	blood:
12	chr4:120132610..120134570-chr4:120221091..120222996,2	MCF-7	breast:
13	chr4:120133564..120134402-chr6:111279621..111280394,2	NB4	blood:
14	chr4:10118096..10120134-chr4:120132938..120134985,2	MCF-7	breast:
15	chr2:85766183..85766775-chr4:120133586..120134218,2	Hela-S3	cervix:
16	chr2:237076560..237077378-chr4:120133405..120134232,2	HCT-116	colon:
17	chr19:17325801..17326493-chr4:120133796..120134368,2	Hela-S3	cervix:
18	chr4:120131923..120135922-chr4:120985229..120990455,5	K562	blood:
19	chr11:62572491..62573213-chr4:120133328..120134306,3	HCT-116	colon:
20	chr21:27542699..27543375-chr4:120133383..120134375,2	HCT-116	colon:
21	chr4:120133662..120134401-chr5:56205967..56206598,2	Hela-S3	cervix:
22	chr4:120132950..120135145-chr4:120157017..120160702,4	MCF-7	breast:
23	chr4:120130951..120136158-chr4:120218006..120223072,8	K562	blood:
24	chr11:65189817..65190683-chr4:120133737..120134690,2	Hela-S3	cervix:
25	chr4:120133671..120134385-chr7:72971335..72972101,2	Hela-S3	cervix:
26	chr1:145507495..145508047-chr4:120133681..120134321,2	Hela-S3	cervix:
27	chr1:28975031..28975543-chr4:120133549..120134385,2	HCT-116	colon:
28	chr1:109939637..109942305-chr4:120134026..120136766,2	MCF-7	breast:
29	chr4:120133997..120134914-chr5:271343..272094,2	Hela-S3	cervix:
30	chr4:120133772..120134736-chr6:30294177..30294683,2	Hela-S3	cervix:
31	chr12:52444388..52445647-chr4:120133689..120134398,3	Hela-S3	cervix:
32	chr4:120133423..120134176-chr6:43603254..43603981,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000178636	TF binding region
USP53	TF binding region
ENSG00000270103	Chromatin interaction
ENSG00000124688	Chromatin interaction
ENSG00000234222	Chromatin interaction
ENSG00000134243	Chromatin interaction
ENSG00000142192	Chromatin interaction
ENSG00000135316	Chromatin interaction
ENSG00000225230	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000249356	Chromatin interaction
ENSG00000227543	Chromatin interaction
ENSG00000155115	Chromatin interaction
ENSG00000163399	Chromatin interaction
ENSG00000106635	Chromatin interaction
ENSG00000204599	Chromatin interaction
ENSG00000150961	Chromatin interaction
ENSG00000076382	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000136518	Chromatin interaction
ENSG00000273492	Chromatin interaction
ENSG00000231074	Chromatin interaction
ENSG00000164096	Chromatin interaction
ENSG00000053501	Chromatin interaction
ENSG00000249915	Chromatin interaction
ENSG00000168505	Chromatin interaction
ENSG00000071127	Chromatin interaction
ENSG00000131795	Chromatin interaction
ENSG00000145390	Chromatin interaction
ENSG00000168906	Chromatin interaction
ENSG00000248925	Chromatin interaction
ENSG00000164109	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000250938	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1033086	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11932775	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1397606	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1397612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1511020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17050457	0.87[AMR][1000 genomes]
rs2389744	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4263382	1.00[ASN][1000 genomes]
rs4270572	1.00[ASN][1000 genomes]
rs4301093	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4352459	1.00[ASN][1000 genomes]
rs4441740	1.00[ASN][1000 genomes]
rs4452412	0.96[EUR][1000 genomes]
rs4458436	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4611910	1.00[ASN][1000 genomes]
rs4834758	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4834759	1.00[EUR][1000 genomes]
rs4834760	1.00[EUR][1000 genomes]
rs4834763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534129	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6814008	1.00[ASN][1000 genomes]
rs6818150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6823192	0.87[AMR][1000 genomes]
rs6853132	0.87[AMR][1000 genomes]
rs6853317	0.96[EUR][1000 genomes]
rs6853794	1.00[ASN][1000 genomes]
rs7658445	0.87[AMR][1000 genomes]
rs7668809	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7668987	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7684673	0.87[AMR][1000 genomes]
rs7690674	0.87[AMR][1000 genomes]
rs7692328	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9991222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9998382	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1008115	chr4:120007913-120143849	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120132000-120137000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:120132200-120135400	Active TSS	Psoas Muscle	Psoas
3	chr4:120132200-120136400	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr4:120132400-120134400	Active TSS	Adipose Nuclei	Adipose
5	chr4:120132400-120135200	Active TSS	Left Ventricle	heart
6	chr4:120132400-120135800	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr4:120132400-120136200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:120132400-120136200	Active TSS	NH-A	brain
9	chr4:120132400-120136400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr4:120132400-120136400	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr4:120132400-120136400	Active TSS	Stomach Smooth Muscle	stomach
12	chr4:120132400-120137000	Active TSS	Right Ventricle	heart
13	chr4:120132600-120134200	Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr4:120132600-120134400	Active TSS	Fetal Lung	lung
15	chr4:120132600-120134800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:120132600-120134800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:120132600-120135000	Active TSS	Liver	Liver
18	chr4:120132600-120135000	Active TSS	Rectal Smooth Muscle	rectum
19	chr4:120132600-120135200	Active TSS	H9 Cell Line	embryonic stem cell
20	chr4:120132600-120135200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:120132600-120135400	Active TSS	Duodenum Mucosa	Duodenum
22	chr4:120132600-120135600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr4:120132600-120135600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:120132600-120135600	Active TSS	Brain Anterior Caudate	brain
25	chr4:120132600-120135600	Active TSS	Fetal Intestine Large	intestine
26	chr4:120132600-120135800	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr4:120132600-120136000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr4:120132600-120136000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:120132600-120136000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:120132600-120136000	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr4:120132600-120136000	Active TSS	Osteobl	bone
32	chr4:120132600-120136200	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr4:120132600-120136200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:120132600-120136200	Active TSS	HMEC	breast
35	chr4:120132600-120136600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:120132600-120136600	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr4:120132600-120136600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:120132600-120136800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:120132600-120136800	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr4:120132600-120136800	Active TSS	NHEK	skin
41	chr4:120132600-120137000	Active TSS	NHDF-Ad	bronchial
42	chr4:120132600-120137200	Active TSS	NHLF	lung
43	chr4:120132600-120137400	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr4:120132600-120138200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:120132800-120134600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr4:120132800-120134800	Active TSS	Primary T cells fromperipheralblood	blood
47	chr4:120132800-120134800	Active TSS	Colon Smooth Muscle	Colon
48	chr4:120132800-120135000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:120132800-120135000	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr4:120132800-120135200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links