Variant report

Variant	rs4712915
Chromosome Location	chr6:25345295-25345296
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12192517	0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs12193883	0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs1569558	0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2328853	0.91[CEU][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34283429	0.85[ASN][1000 genomes]
rs4712916	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4712917	0.91[CEU][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73399941	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9393641	0.91[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883485	chr6:25259137-25437986	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv883486	chr6:25260434-25422369	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv883487	chr6:25280119-25508868	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv830612	chr6:25342408-25509758	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25332000-25346800	Weak transcription	Ovary	ovary
2	chr6:25333800-25346400	Weak transcription	Left Ventricle	heart
3	chr6:25335200-25359800	Weak transcription	Thymus	Thymus
4	chr6:25336800-25350200	Weak transcription	Lung	lung
5	chr6:25336800-25354600	Weak transcription	Right Atrium	heart
6	chr6:25337400-25357800	Weak transcription	NHEK	skin
7	chr6:25339600-25346200	Weak transcription	Fetal Lung	lung
8	chr6:25340000-25349400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:25341000-25352800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:25341000-25359400	Weak transcription	Pancreas	Pancrea
11	chr6:25341400-25345800	Weak transcription	Gastric	stomach
12	chr6:25342200-25346400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:25342400-25345600	Weak transcription	Small Intestine	intestine
14	chr6:25342400-25346400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:25342400-25350600	Weak transcription	HSMMtube	muscle
16	chr6:25342800-25346200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr6:25342800-25346400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:25342800-25346400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:25342800-25351800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr6:25342800-25354400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:25343000-25346400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr6:25343000-25352600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr6:25343400-25346200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr6:25343400-25346400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:25343400-25346600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr6:25343600-25346000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr6:25343600-25348200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr6:25343800-25345400	Enhancers	Aorta	Aorta
29	chr6:25343800-25346200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:25343800-25346200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:25343800-25346200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr6:25343800-25346200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr6:25343800-25346200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:25343800-25346400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr6:25343800-25346400	Weak transcription	Fetal Intestine Small	intestine
36	chr6:25343800-25346600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:25343800-25350600	Weak transcription	Fetal Intestine Large	intestine
38	chr6:25343800-25354000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:25344000-25345400	Enhancers	GM12878-XiMat	blood
40	chr6:25344000-25346200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:25344000-25346200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr6:25344000-25346400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr6:25344000-25346600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:25344000-25350600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:25344200-25349400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr6:25344800-25346000	Enhancers	Stomach Mucosa	stomach
47	chr6:25344800-25346200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:25345000-25346000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:25345200-25346600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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