Variant report

Variant	rs17015004
Chromosome Location	chr1:209824410-209824411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:209822794..209824585-chr1:209831466..209834009,2	K562	blood:
2	chr1:209822747..209824605-chr1:209978832..209981504,2	MCF-7	breast:
3	chr1:209809942..209814194-chr1:209821440..209824587,3	K562	blood:
4	chr1:209821933..209824497-chr1:209825601..209827307,2	MCF-7	breast:
5	chr1:209824079..209824665-chr6:50210474..50210974,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000196878	Chromatin interaction
ENSG00000117595	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12565406	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv2762140	chr1:209816331-209830347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209814200-209825000	Enhancers	Fetal Muscle Leg	muscle
2	chr1:209814600-209826800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr1:209817000-209825400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr1:209817400-209824600	Weak transcription	Aorta	Aorta
5	chr1:209817600-209824800	Transcr. at gene 5' and 3'	HMEC	breast
6	chr1:209817800-209825800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:209817800-209826000	Weak transcription	Brain Angular Gyrus	brain
8	chr1:209818000-209826000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:209818200-209825800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:209818200-209826000	Weak transcription	Brain Substantia Nigra	brain
11	chr1:209818600-209825200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:209819000-209825200	Enhancers	HSMM	muscle
13	chr1:209819200-209824800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:209819200-209825000	Transcr. at gene 5' and 3'	NHEK	skin
15	chr1:209819200-209825400	Enhancers	NHLF	lung
16	chr1:209819200-209827400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:209819200-209831200	Enhancers	Pancreas	Pancrea
18	chr1:209819800-209825000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:209819800-209825000	Enhancers	NHDF-Ad	bronchial
20	chr1:209820000-209825400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:209820000-209825400	Enhancers	Stomach Smooth Muscle	stomach
22	chr1:209820000-209825600	Weak transcription	Fetal Brain Female	brain
23	chr1:209820000-209825800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:209820400-209826200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:209820800-209825800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:209820800-209826000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:209821000-209826200	Weak transcription	Fetal Brain Male	brain
28	chr1:209821600-209825000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr1:209821600-209828000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:209821800-209824800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:209821800-209824800	Enhancers	Small Intestine	intestine
32	chr1:209821800-209825000	Enhancers	HUVEC	blood vessel
33	chr1:209822000-209824800	Enhancers	Lung	lung
34	chr1:209822000-209825000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:209822400-209825000	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr1:209822400-209825000	Enhancers	Right Ventricle	heart
37	chr1:209822400-209825800	Enhancers	Placenta	Placenta
38	chr1:209822600-209827200	Enhancers	HSMMtube	muscle
39	chr1:209822800-209825000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:209822800-209825000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:209822800-209825200	Enhancers	NH-A	brain
42	chr1:209822800-209825200	Enhancers	Osteobl	bone
43	chr1:209823000-209824600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr1:209823000-209826400	Weak transcription	Psoas Muscle	Psoas
45	chr1:209823000-209836200	Weak transcription	Ovary	ovary
46	chr1:209823200-209825000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:209823200-209825000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:209823200-209825200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr1:209823200-209825200	Enhancers	K562	blood
50	chr1:209823200-209825600	Weak transcription	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links