Variant report

Variant	rs57395617
Chromosome Location	chr8:8952791-8952792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8952654..8954720-chr8:9007801..9010554,2	MCF-7	breast:
2	chr8:8952658..8954471-chr8:8958046..8960043,2	K562	blood:
3	chr8:8947247..8949756-chr8:8951102..8953097,2	K562	blood:
4	chr8:8951477..8953805-chr8:8956815..8960105,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173281	Chromatin interaction
ENSG00000253426	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10081498	1.00[EUR][1000 genomes]
rs10081588	1.00[EUR][1000 genomes]
rs10095271	1.00[EUR][1000 genomes]
rs10105124	1.00[EUR][1000 genomes]
rs17155175	1.00[EUR][1000 genomes]
rs28482415	1.00[EUR][1000 genomes]
rs57859383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57935527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59021004	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59576472	0.91[AMR][1000 genomes]
rs60366628	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs61648635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6995759	0.83[AMR][1000 genomes]
rs73520791	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73520793	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73520798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73522703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73522713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73522718	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73526352	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73526355	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73526356	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73526366	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73526369	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73526377	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73526388	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73526398	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73528107	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73528109	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs920973	1.00[EUR][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	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
4	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
5	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
6	nsv523098	chr8:8944307-8982396	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv526092	chr8:8944307-8982396	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8935400-8959600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr8:8946400-8953400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:8946600-8953400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:8946600-8953400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:8949200-8953000	Weak transcription	Fetal Intestine Large	intestine
6	chr8:8950000-8954000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:8950600-8954600	Enhancers	Stomach Mucosa	stomach
8	chr8:8951600-8952800	Enhancers	Fetal Heart	heart
9	chr8:8951600-8953200	Enhancers	Fetal Lung	lung
10	chr8:8951600-8954200	Enhancers	Fetal Muscle Leg	muscle
11	chr8:8951600-8954600	Enhancers	A549	lung
12	chr8:8951800-8954400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:8951800-8954600	Enhancers	Liver	Liver
14	chr8:8951800-8954600	Enhancers	Ovary	ovary
15	chr8:8952000-8953600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:8952200-8953000	Weak transcription	Lung	lung
17	chr8:8952200-8953200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:8952200-8953200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:8952200-8953200	Weak transcription	Pancreas	Pancrea
20	chr8:8952200-8953400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:8952200-8953600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:8952200-8953600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr8:8952200-8957800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr8:8952200-8958400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr8:8952400-8952800	Weak transcription	Fetal Intestine Small	intestine
26	chr8:8952400-8953400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:8952400-8953400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:8952400-8953400	Weak transcription	Fetal Stomach	stomach
29	chr8:8952600-8953400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links