Variant report

Variant	rs12568035
Chromosome Location	chr1:209803783-209803784
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:209802187..209804271-chr1:209805371..209807292,2	K562	blood:
2	chr1:209800870..209803812-chr1:209809987..209812657,3	K562	blood:
3	chr1:209802885..209804610-chr1:209822398..209824782,2	MCF-7	breast:
4	chr1:209802370..209804993-chr1:209955747..209957464,2	K562	blood:

Variant related genes	Relation type
ENSG00000196878	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12567766	0.87[CHB][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2076349	0.83[ASW][hapmap]
rs2076351	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2076354	0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2236891	0.94[CHB][hapmap];0.89[CHD][hapmap];0.80[JPT][hapmap];0.83[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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209787200-209808400	Strong transcription	Placenta Amnion	Placenta Amnion
2	chr1:209787400-209816200	Strong transcription	NHEK	skin
3	chr1:209792400-209806400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:209795200-209804400	Strong transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:209798000-209805200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:209799400-209806600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:209799800-209814600	Strong transcription	Fetal Intestine Small	intestine
8	chr1:209800000-209813200	Strong transcription	Fetal Intestine Large	intestine
9	chr1:209800600-209805800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:209800800-209804200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:209800800-209804800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:209801200-209804200	Weak transcription	Fetal Brain Female	brain
13	chr1:209801200-209806400	Weak transcription	HSMM	muscle
14	chr1:209801200-209806600	Weak transcription	Osteobl	bone
15	chr1:209801200-209811600	Weak transcription	Stomach Mucosa	stomach
16	chr1:209801200-209814800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:209801400-209804000	Weak transcription	Fetal Brain Male	brain
18	chr1:209801400-209805200	Strong transcription	HMEC	breast
19	chr1:209801400-209806600	Weak transcription	NH-A	brain
20	chr1:209801400-209812800	Weak transcription	Pancreas	Pancrea
21	chr1:209801400-209814800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:209801600-209803800	Weak transcription	Psoas Muscle	Psoas
23	chr1:209801600-209804200	Weak transcription	Esophagus	oesophagus
24	chr1:209801600-209804400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:209801600-209805600	Strong transcription	Fetal Stomach	stomach
26	chr1:209801600-209807600	Weak transcription	Colonic Mucosa	Colon
27	chr1:209801600-209808200	Weak transcription	Fetal Lung	lung
28	chr1:209801600-209814600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:209801600-209818000	Weak transcription	Spleen	Spleen
30	chr1:209801600-209819800	Weak transcription	Lung	lung
31	chr1:209801800-209812000	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr1:209802000-209807000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:209802200-209804400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr1:209802400-209804200	Weak transcription	Small Intestine	intestine
35	chr1:209802400-209804400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr1:209802400-209805000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr1:209802400-209805200	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr1:209802600-209803800	Enhancers	Brain Cingulate Gyrus	brain
39	chr1:209802600-209804400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr1:209802600-209804800	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr1:209802600-209806400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:209802800-209805600	Enhancers	Fetal Heart	heart
43	chr1:209803000-209803800	Enhancers	Brain Substantia Nigra	brain
44	chr1:209803000-209804200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:209803000-209805000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:209803000-209805400	Enhancers	Right Ventricle	heart
47	chr1:209803000-209805600	Enhancers	Left Ventricle	heart
48	chr1:209803000-209806200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:209803000-209806200	Enhancers	Brain Germinal Matrix	brain
50	chr1:209803200-209803800	Enhancers	Brain Anterior Caudate	brain

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