Variant report

Variant	rs1497024
Chromosome Location	chr8:20061469-20061470
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:20060132..20061783-chr8:20074410..20076344,2	K562	blood:
2	chr8:20061426..20067342-chr8:20067355..20071432,7	K562	blood:
3	chr8:20058099..20059707-chr8:20060031..20061752,2	K562	blood:
4	chr8:20059849..20062019-chr8:20071866..20073490,2	K562	blood:

Variant related genes	Relation type
ENSG00000147416	Chromatin interaction

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

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

rs_ID	r²[population]
rs1497019	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1015598	chr8:19963102-20088510	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539523	chr8:19963102-20088510	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv6107	chr8:20056154-20100794	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20056000-20063800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:20056000-20066200	Weak transcription	Esophagus	oesophagus
3	chr8:20056200-20063000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:20056200-20063000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:20056200-20068200	Weak transcription	Colonic Mucosa	Colon
6	chr8:20056200-20072200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:20056400-20063600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr8:20056400-20063800	Weak transcription	Fetal Stomach	stomach
9	chr8:20056400-20066400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:20056400-20066600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:20056400-20089600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:20056600-20063800	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:20056800-20063600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:20056800-20066400	Weak transcription	Fetal Kidney	kidney
15	chr8:20057000-20061800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr8:20057000-20063600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr8:20057000-20063600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:20057000-20066400	Weak transcription	Thymus	Thymus
19	chr8:20057000-20066600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:20057000-20066600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr8:20057000-20066800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr8:20057000-20066800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr8:20057600-20062000	Enhancers	Fetal Intestine Small	intestine
24	chr8:20057600-20062000	Enhancers	Osteobl	bone
25	chr8:20057600-20062400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:20057600-20062800	Enhancers	Fetal Intestine Large	intestine
27	chr8:20057600-20063400	Weak transcription	Lung	lung
28	chr8:20057800-20061600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr8:20057800-20062200	Weak transcription	Fetal Thymus	thymus
30	chr8:20058000-20068000	Weak transcription	Spleen	Spleen
31	chr8:20058200-20061600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:20058200-20061600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:20058200-20061800	Enhancers	NHLF	lung
34	chr8:20058200-20062000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr8:20058400-20061600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr8:20058400-20062000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr8:20058600-20062000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:20058600-20063600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr8:20058600-20066800	Weak transcription	A549	lung
40	chr8:20058800-20061600	Enhancers	HSMMtube	muscle
41	chr8:20058800-20062800	Weak transcription	NHEK	skin
42	chr8:20059000-20061600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:20059000-20061600	Enhancers	Brain Anterior Caudate	brain
44	chr8:20059000-20064000	Weak transcription	HMEC	breast
45	chr8:20059200-20062000	Enhancers	Brain Hippocampus Middle	brain
46	chr8:20059200-20066800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:20059200-20067800	Weak transcription	Hela-S3	cervix
48	chr8:20059400-20061600	Enhancers	Fetal Lung	lung
49	chr8:20059400-20062200	Enhancers	Brain Cingulate Gyrus	brain
50	chr8:20059600-20061600	Enhancers	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links