Variant report

Variant	rs236311
Chromosome Location	chr1:94087359-94087360
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94085180..94089812-chr1:94310226..94315311,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction
ENSG00000211575	Chromatin interaction
ENSG00000260464	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1772781	0.83[ASN][1000 genomes]
rs1772782	0.83[ASN][1000 genomes]
rs236273	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs236285	0.84[AMR][1000 genomes]
rs236287	0.82[AMR][1000 genomes]
rs236288	0.87[AMR][1000 genomes]
rs236291	0.92[AMR][1000 genomes]
rs236301	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs236306	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs236307	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs236308	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs236312	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs236313	0.85[ASN][1000 genomes]
rs236343	0.87[AMR][1000 genomes]
rs236344	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs236345	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs368888	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs399649	0.83[ASN][1000 genomes]
rs423493	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs798213	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs798217	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs798218	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][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	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94057600-94106400	Weak transcription	Primary B cells from cord blood	blood
2	chr1:94077200-94099000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:94079400-94088600	Enhancers	Fetal Intestine Large	intestine
4	chr1:94079600-94088000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr1:94079600-94089400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:94079800-94090000	Enhancers	Stomach Mucosa	stomach
7	chr1:94080000-94088000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:94080000-94089200	Genic enhancers	NHEK	skin
9	chr1:94081200-94095000	Genic enhancers	HSMM	muscle
10	chr1:94082400-94088000	Enhancers	Fetal Intestine Small	intestine
11	chr1:94083400-94088000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:94083400-94091200	Weak transcription	Aorta	Aorta
13	chr1:94083400-94093800	Weak transcription	Psoas Muscle	Psoas
14	chr1:94083400-94108200	Weak transcription	Esophagus	oesophagus
15	chr1:94083600-94101600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:94083800-94088000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:94083800-94088200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:94083800-94091200	Weak transcription	Ovary	ovary
19	chr1:94083800-94091400	Weak transcription	Fetal Stomach	stomach
20	chr1:94083800-94095000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:94084000-94088000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:94084000-94088000	Weak transcription	Brain Substantia Nigra	brain
23	chr1:94084000-94088000	Weak transcription	Pancreas	Pancrea
24	chr1:94084000-94089400	Genic enhancers	HMEC	breast
25	chr1:94084000-94089800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:94084000-94090800	Weak transcription	Fetal Lung	lung
27	chr1:94084000-94091000	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:94084000-94091400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:94084200-94087600	Weak transcription	HUVEC	blood vessel
30	chr1:94084200-94087800	Weak transcription	Brain Germinal Matrix	brain
31	chr1:94084200-94087800	Enhancers	A549	lung
32	chr1:94084200-94088000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:94084200-94088000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:94084200-94088000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:94084200-94090000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:94084200-94090800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:94084200-94091400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:94084200-94101000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:94084400-94087600	Weak transcription	Liver	Liver
40	chr1:94084400-94088000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:94084400-94088000	Weak transcription	Brain Anterior Caudate	brain
42	chr1:94084400-94091400	Enhancers	HepG2	liver
43	chr1:94084600-94091200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:94085000-94087400	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr1:94085000-94088000	Enhancers	NHDF-Ad	bronchial
46	chr1:94085200-94087800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:94085200-94088600	Enhancers	Gastric	stomach
48	chr1:94085200-94091000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:94085200-94091400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:94085200-94092200	Enhancers	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links