Variant report

Variant	rs6719885
Chromosome Location	chr2:33508990-33508991
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:33505710..33509161-chr2:33514931..33517884,3	K562	blood:
2	chr2:33508471..33509397-chr2:33534003..33534531,2	K562	blood:
3	chr2:33508125..33510502-chr2:33516735..33518824,2	K562	blood:

Variant related genes	Relation type
ENSG00000049323	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs12104905	1.00[AMR][1000 genomes]
rs12105049	1.00[AMR][1000 genomes]
rs12105569	1.00[AMR][1000 genomes]
rs1454377	1.00[AMR][1000 genomes]
rs17012599	1.00[AMR][1000 genomes]
rs17012645	1.00[AMR][1000 genomes]
rs17012647	1.00[AMR][1000 genomes]
rs17012677	1.00[AMR][1000 genomes]
rs17012993	1.00[AMR][1000 genomes]
rs17038528	1.00[AMR][1000 genomes]
rs17038533	1.00[AMR][1000 genomes]
rs3845776	1.00[AMR][1000 genomes]
rs55676641	1.00[AMR][1000 genomes]
rs56191261	1.00[AMR][1000 genomes]
rs57040194	1.00[AMR][1000 genomes]
rs57043920	1.00[AMR][1000 genomes]
rs57555315	1.00[AMR][1000 genomes]
rs58019979	1.00[AMR][1000 genomes]
rs58248415	1.00[AMR][1000 genomes]
rs58447746	1.00[AMR][1000 genomes]
rs59291317	1.00[AMR][1000 genomes]
rs60690063	1.00[AMR][1000 genomes]
rs60756139	1.00[AMR][1000 genomes]
rs61050968	1.00[AMR][1000 genomes]
rs61154196	1.00[AMR][1000 genomes]
rs61163843	1.00[AMR][1000 genomes]
rs61332576	1.00[AMR][1000 genomes]
rs6706960	1.00[AMR][1000 genomes]
rs6707278	1.00[AMR][1000 genomes]
rs6710588	1.00[AMR][1000 genomes]
rs6724967	1.00[AMR][1000 genomes]
rs6725045	1.00[AMR][1000 genomes]
rs6736870	1.00[AMR][1000 genomes]
rs6739497	1.00[AMR][1000 genomes]
rs6741450	1.00[AMR][1000 genomes]
rs6752263	1.00[AMR][1000 genomes]
rs73924181	1.00[AMR][1000 genomes]
rs73924183	1.00[AMR][1000 genomes]
rs73924186	1.00[AMR][1000 genomes]
rs73924192	1.00[AMR][1000 genomes]
rs73924195	1.00[AMR][1000 genomes]
rs73924197	1.00[AMR][1000 genomes]
rs73925003	1.00[AMR][1000 genomes]
rs73925009	1.00[AMR][1000 genomes]
rs73925011	1.00[AMR][1000 genomes]
rs73925681	1.00[AMR][1000 genomes]
rs73925695	1.00[AMR][1000 genomes]
rs73925697	1.00[AMR][1000 genomes]
rs73925698	1.00[AMR][1000 genomes]
rs73925700	1.00[AMR][1000 genomes]
rs73926609	1.00[AMR][1000 genomes]
rs73927363	1.00[AMR][1000 genomes]
rs73927504	1.00[AMR][1000 genomes]
rs73927505	1.00[AMR][1000 genomes]
rs73927506	1.00[AMR][1000 genomes]
rs73927507	1.00[AMR][1000 genomes]
rs73927508	1.00[AMR][1000 genomes]
rs73929408	1.00[AMR][1000 genomes]
rs73929409	1.00[AMR][1000 genomes]
rs73929412	1.00[AMR][1000 genomes]
rs73929413	1.00[AMR][1000 genomes]
rs73929415	1.00[AMR][1000 genomes]
rs7594149	1.00[AMR][1000 genomes]
rs957131	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	nsv873791	chr2:33489975-33586776	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv518285	chr2:33502505-33509219	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1011020	chr2:33508811-33527784	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33472000-33516600	Weak transcription	Psoas Muscle	Psoas
2	chr2:33487000-33509800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:33490600-33515600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:33492000-33515800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:33492200-33516600	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:33492200-33516600	Weak transcription	Brain Substantia Nigra	brain
7	chr2:33492400-33547400	Weak transcription	Fetal Intestine Small	intestine
8	chr2:33493600-33515200	Weak transcription	Fetal Lung	lung
9	chr2:33493800-33515400	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:33494200-33516000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:33494200-33516200	Weak transcription	Fetal Kidney	kidney
12	chr2:33494600-33515200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:33501200-33511000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:33501200-33516400	Weak transcription	Stomach Mucosa	stomach
15	chr2:33501200-33528800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:33501400-33516600	Weak transcription	K562	blood
17	chr2:33501600-33509000	Weak transcription	HUVEC	blood vessel
18	chr2:33501800-33517800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:33502400-33512400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:33502400-33512600	Weak transcription	Lung	lung
21	chr2:33502400-33514000	Strong transcription	Osteobl	bone
22	chr2:33502400-33516000	Weak transcription	Brain Angular Gyrus	brain
23	chr2:33502400-33516600	Weak transcription	Pancreas	Pancrea
24	chr2:33502400-33516600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:33502400-33516800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:33502400-33516800	Weak transcription	Esophagus	oesophagus
27	chr2:33502600-33515200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:33502600-33515400	Weak transcription	NHDF-Ad	bronchial
29	chr2:33502600-33515800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:33502600-33537000	Weak transcription	Fetal Intestine Large	intestine
31	chr2:33503200-33515000	Weak transcription	Ovary	ovary
32	chr2:33503400-33515600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:33503600-33515400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:33503600-33518200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr2:33504000-33515800	Weak transcription	Fetal Brain Female	brain
36	chr2:33504200-33516000	Weak transcription	Fetal Brain Male	brain
37	chr2:33504400-33511800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:33505000-33526200	Weak transcription	Placenta	Placenta
39	chr2:33505400-33509200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:33505600-33512400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:33506200-33514400	Weak transcription	Fetal Stomach	stomach
42	chr2:33506400-33510200	Strong transcription	NH-A	brain
43	chr2:33506600-33509200	Weak transcription	NHLF	lung
44	chr2:33506800-33509000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:33506800-33509000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:33506800-33509400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:33506800-33509400	Weak transcription	Left Ventricle	heart
48	chr2:33506800-33514600	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:33506800-33514800	Weak transcription	Aorta	Aorta
50	chr2:33506800-33515800	Weak transcription	Right Ventricle	heart

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