Variant report

Variant	rs11204842
Chromosome Location	chr1:151508061-151508062
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:151508060-151508210	HCPEpiC	choroid plexus:	n/a	n/a
2	CTCF	chr1:151508040-151508190	WERI-Rb-1	eye:	n/a	n/a
3	CTCF	chr1:151508040-151508190	K562	blood:	n/a	n/a
4	CTCF	chr1:151508020-151508170	BJ	skin:	n/a	n/a
5	CTCF	chr1:151507940-151508090	HCFaa	heart:	n/a	n/a
6	CTCF	chr1:151508000-151508150	HMEC	breast:	n/a	n/a
7	CTCF	chr1:151508000-151508150	HEK293	kidney:	n/a	n/a
8	CTCF	chr1:151507940-151508090	HBMEC	blood vessel:	n/a	n/a
9	CTCF	chr1:151508000-151508150	MCF-7	breast:	n/a	n/a
10	CTCF	chr1:151507940-151508090	AG09309	skin:	n/a	n/a
11	CTCF	chr1:151507980-151508130	AG04449	skin:	n/a	n/a
12	CTCF	chr1:151508040-151508190	AG04449	skin:	n/a	n/a
13	CTCF	chr1:151507960-151508110	HepG2	liver:	n/a	n/a
14	CTCF	chr1:151507960-151508110	HMF	breast:	n/a	n/a
15	CTCF	chr1:151508000-151508150	GM12866	blood:	n/a	n/a
16	CTCF	chr1:151506830-151508617	A549	lung:	n/a	n/a
17	CTCF	chr1:151507980-151508130	AG10803	skin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:151481429..151491154-chr1:151502501..151517487,49	MCF-7	breast:
2	chr1:151506418..151509266-chr1:151811121..151813998,3	MCF-7	breast:
3	chr1:151421812..151434588-chr1:151506621..151515599,30	MCF-7	breast:
4	chr1:151500102..151501851-chr1:151505954..151508136,2	MCF-7	breast:
5	1:151171193-151178589..1:151496437-151509688	Hela-S3	cervix:
6	chr1:151507235..151508171-chr1:151808641..151809567,3	MCF-7	breast:
7	chr1:151477348..151494376-chr1:151504804..151515249,50	MCF-7	breast:
8	1:151496437-151509688..1:151592347-151603110	Hela-S3	cervix:
9	1:151402394-151411623..1:151496437-151509688	K562	blood:
10	chr1:151428567..151432402-chr1:151505978..151509700,4	MCF-7	breast:

No data

Variant related genes	Relation type
CGN	TF binding region
ENSG00000232536	TF binding region
TUFT1	TF binding region
ENSG00000238711	Chromatin interaction
ENSG00000252840	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000225556	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000206635	Chromatin interaction
ENSG00000143375	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10158855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11204845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11204846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11204847	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12034149	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12117155	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12753658	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1891593	0.96[EUR][1000 genomes]
rs2337360	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34589182	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35436273	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3828055	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4970956	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4970958	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56096667	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56188938	0.84[EUR][1000 genomes]
rs6669998	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7521397	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7526319	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7549296	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868138	0.92[AMR][1000 genomes];0.95[EUR][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	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers 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	219 gene(s)	inside rSNPs	diseases
2	nsv997511	chr1:151491765-151595902	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 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	chr1:151484600-151512000	Weak transcription	Right Atrium	heart
2	chr1:151485200-151511800	Weak transcription	Fetal Brain Female	brain
3	chr1:151485800-151511800	Weak transcription	Brain Germinal Matrix	brain
4	chr1:151485800-151512200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:151486600-151511800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:151486800-151512200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:151487000-151511800	Weak transcription	Small Intestine	intestine
8	chr1:151491600-151509000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:151493400-151511800	Weak transcription	Brain Anterior Caudate	brain
10	chr1:151493400-151511800	Weak transcription	Ovary	ovary
11	chr1:151493400-151512200	Weak transcription	Fetal Kidney	kidney
12	chr1:151493600-151511200	Strong transcription	Fetal Intestine Large	intestine
13	chr1:151494400-151511800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:151495400-151511200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:151495400-151511400	Strong transcription	Liver	Liver
16	chr1:151495600-151511000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:151497600-151510200	Strong transcription	Fetal Intestine Small	intestine
18	chr1:151498000-151511800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:151498200-151508800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:151499800-151508600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:151499800-151511000	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr1:151500000-151511000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:151500000-151511000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:151500800-151510800	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:151501200-151511000	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:151501800-151510800	Strong transcription	Pancreas	Pancrea
27	chr1:151502400-151509800	Weak transcription	Brain Angular Gyrus	brain
28	chr1:151502600-151511800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:151503200-151508600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:151503200-151508600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:151503400-151511800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr1:151503400-151512400	Weak transcription	Esophagus	oesophagus
33	chr1:151503400-151512800	Weak transcription	Aorta	Aorta
34	chr1:151504200-151511800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:151504800-151510800	Strong transcription	Gastric	stomach
36	chr1:151506000-151510200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr1:151506000-151510600	Strong transcription	Lung	lung
38	chr1:151506200-151510200	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr1:151506200-151510400	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:151506400-151510400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:151506400-151510600	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr1:151506400-151510800	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr1:151506600-151510800	Strong transcription	Fetal Stomach	stomach
44	chr1:151507000-151509400	Enhancers	NHEK	skin
45	chr1:151507400-151508400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr1:151507400-151508400	Strong transcription	Stomach Mucosa	stomach
47	chr1:151507400-151508400	Enhancers	NH-A	brain
48	chr1:151507400-151508600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:151507400-151508600	Enhancers	NHLF	lung
50	chr1:151507400-151509400	Enhancers	A549	lung

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