Variant report

Variant	rs61730229
Chromosome Location	chr8:8860824-8860825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8858968..8861271-chr8:9414006..9415764,2	K562	blood:
2	chr8:8860553..8862183-chr8:9011362..9013111,2	K562	blood:
3	chr8:8859472..8863506-chr8:8866779..8870820,4	MCF-7	breast:
4	chr8:8859158..8867027-chr8:8867199..8874373,17	K562	blood:

Variant related genes	Relation type
ENSG00000104626	Chromatin interaction
ENSG00000272267	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11984720	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11990376	1.00[AMR][1000 genomes]
rs11990446	1.00[AMR][1000 genomes]
rs11994497	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17154990	1.00[AMR][1000 genomes]
rs17155102	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56373388	1.00[AMR][1000 genomes]
rs57259163	1.00[AMR][1000 genomes]
rs58797442	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59137033	1.00[AMR][1000 genomes]
rs59635029	1.00[EUR][1000 genomes]
rs6983343	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7007282	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73518367	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73518386	1.00[AMR][1000 genomes]
rs73522591	1.00[AMR][1000 genomes]
rs73522596	1.00[AMR][1000 genomes]
rs73524091	1.00[AMR][1000 genomes]
rs73524209	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73524213	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73524221	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73524263	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73524268	1.00[AMR][1000 genomes]
rs73526008	1.00[AMR][1000 genomes]
rs7824053	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7839186	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	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a
5	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8859600-8861000	Active TSS	Colon Smooth Muscle	Colon
2	chr8:8859600-8861400	Active TSS	A549	lung
3	chr8:8859600-8861600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:8859600-8862000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:8859600-8862000	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr8:8859800-8861000	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr8:8859800-8861000	Active TSS	Brain Angular Gyrus	brain
8	chr8:8859800-8861000	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr8:8859800-8861000	Active TSS	Duodenum Mucosa	Duodenum
10	chr8:8859800-8861000	Active TSS	Fetal Brain Male	brain
11	chr8:8859800-8861000	Active TSS	Fetal Lung	lung
12	chr8:8859800-8861000	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr8:8859800-8861200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:8859800-8861200	Active TSS	Brain Substantia Nigra	brain
15	chr8:8859800-8861200	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr8:8859800-8861200	Active TSS	Fetal Kidney	kidney
17	chr8:8859800-8861200	Active TSS	Fetal Muscle Trunk	muscle
18	chr8:8859800-8861200	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr8:8859800-8861200	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr8:8859800-8861200	Active TSS	HSMMtube	muscle
21	chr8:8859800-8861400	Active TSS	H1 Cell Line	embryonic stem cell
22	chr8:8859800-8861400	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr8:8859800-8861400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:8859800-8861400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:8859800-8861400	Active TSS	Right Ventricle	heart
26	chr8:8859800-8861400	Active TSS	NHLF	lung
27	chr8:8859800-8861600	Active TSS	H9 Cell Line	embryonic stem cell
28	chr8:8859800-8861600	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr8:8859800-8861800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:8859800-8861800	Active TSS	Psoas Muscle	Psoas
31	chr8:8859800-8862000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:8859800-8862000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:8859800-8862000	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr8:8859800-8862000	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr8:8860000-8861000	Active TSS	Brain Anterior Caudate	brain
36	chr8:8860000-8861000	Active TSS	Fetal Brain Female	brain
37	chr8:8860000-8861000	Active TSS	Fetal Intestine Small	intestine
38	chr8:8860000-8861000	Active TSS	Rectal Smooth Muscle	rectum
39	chr8:8860000-8861200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:8860000-8861200	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr8:8860000-8861200	Active TSS	Aorta	Aorta
42	chr8:8860000-8861200	Active TSS	Fetal Heart	heart
43	chr8:8860000-8861200	Active TSS	Placenta	Placenta
44	chr8:8860000-8861200	Active TSS	Fetal Stomach	stomach
45	chr8:8860000-8861400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr8:8860000-8861400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:8860000-8861400	Active TSS	Primary T cells fromperipheralblood	blood
48	chr8:8860000-8861400	Active TSS	Fetal Intestine Large	intestine
49	chr8:8860000-8861400	Active TSS	Fetal Muscle Leg	muscle
50	chr8:8860000-8861400	Active TSS	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links