Variant report

Variant	rs4847205
Chromosome Location	chr1:95062066-95062067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:95061940-95062090	HEK293	kidney:	n/a	n/a
2	CTCF	chr1:95061980-95062130	NHDF-neo	bronchial:	n/a	n/a
3	CTCF	chr1:95061923-95062078	H1-hESC	embryonic stem cell:	n/a	n/a
4	SMC3	chr1:95062017-95062112	HepG2	liver:	n/a	n/a
5	CTCF	chr1:95061920-95062070	WERI-Rb-1	eye:	n/a	n/a
6	RAD21	chr1:95061896-95062124	HepG2	liver:	n/a	n/a
7	SMC3	chr1:95061269-95062154	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr1:95061780-95062128	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr1:95061831-95062186	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr1:95061920-95062070	GM12874	blood:	n/a	n/a
11	CTCF	chr1:95061960-95062110	HCPEpiC	choroid plexus:	n/a	n/a
12	CTCF	chr1:95061980-95062130	Hela-S3	cervix:	n/a	n/a
13	RAD21	chr1:95061771-95062209	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr1:95061908-95062090	HepG2	liver:	n/a	n/a
15	CTCF	chr1:95061960-95062110	HAc	cerebellar:	n/a	n/a
16	RAD21	chr1:95061932-95062096	Hela-S3	cervix:	n/a	n/a
17	TEAD4	chr1:95061922-95062156	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr1:95061940-95062090	AG04449	skin:	n/a	n/a
19	CTCF	chr1:95061840-95062130	HCT-116	colon:	n/a	n/a
20	CTCF	chr1:95062060-95062210	GM12874	blood:	n/a	n/a
21	RAD21	chr1:95061722-95062289	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr1:95061920-95062070	A549	lung:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000223675	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1098718	0.86[AFR][1000 genomes]
rs1104365	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1146490	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1146493	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1146495	0.83[AFR][1000 genomes]
rs1146502	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11587053	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1245216	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17111571	1.00[CHD][hapmap]
rs2022033	1.00[ASN][1000 genomes]
rs2066285	1.00[ASN][1000 genomes]
rs2066286	1.00[ASN][1000 genomes]
rs6683135	1.00[ASN][1000 genomes]
rs698941	1.00[ASN][1000 genomes]
rs72729550	1.00[ASN][1000 genomes]
rs72729555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72729561	1.00[ASN][1000 genomes]
rs7519356	1.00[ASN][1000 genomes]
rs841680	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs841702	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs841703	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	nsv870696	chr1:95005220-95081587	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv871391	chr1:95005220-95083836	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv871279	chr1:95028981-95083836	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1804937	chr1:95051930-95081587	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95046000-95065400	Weak transcription	Fetal Intestine Large	intestine
2	chr1:95056200-95067800	Weak transcription	Gastric	stomach
3	chr1:95056800-95069000	Weak transcription	Right Atrium	heart
4	chr1:95057400-95069000	Weak transcription	Aorta	Aorta
5	chr1:95059200-95062800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:95059400-95064600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:95059400-95074200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:95060200-95062400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:95060400-95063000	Weak transcription	Hela-S3	cervix
10	chr1:95060800-95063400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:95060800-95064400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:95060800-95065400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:95061400-95066000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:95061400-95076800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:95061600-95062400	Enhancers	Placenta	Placenta
16	chr1:95061600-95063000	Weak transcription	NHEK	skin
17	chr1:95061600-95064400	Weak transcription	HMEC	breast
18	chr1:95061600-95064600	Weak transcription	Stomach Mucosa	stomach
19	chr1:95061600-95065000	Weak transcription	Brain Anterior Caudate	brain
20	chr1:95061600-95067600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:95061600-95068800	Weak transcription	NHLF	lung
22	chr1:95061600-95071600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:95061800-95062200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:95061800-95064800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:95061800-95065400	Weak transcription	Fetal Intestine Small	intestine
26	chr1:95062000-95062200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:95062000-95062400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:95062000-95063200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:95062000-95063200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:95062000-95063600	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:95062000-95066600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:95062000-95072200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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