Variant report

Variant	rs2472815
Chromosome Location	chr6:14791441-14791442
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:14774059..14776113-chr6:14790348..14791992,2	K562	blood:
2	chr6:14788518..14793706-chr6:14794732..14798301,6	K562	blood:
3	chr6:14790824..14794391-chr6:14796656..14800219,3	MCF-7	breast:
4	chr6:14789015..14791833-chr6:14802497..14804530,2	K562	blood:
5	chr6:14788518..14794395-chr6:14794732..14800573,9	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1014609	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1014610	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2472807	0.82[ASN][1000 genomes]
rs2472812	0.86[ASN][1000 genomes]
rs2472813	0.86[ASN][1000 genomes]
rs2472814	0.96[ASN][1000 genomes]
rs2500080	0.82[ASN][1000 genomes]
rs2500081	0.86[ASN][1000 genomes]
rs2500083	0.86[ASN][1000 genomes]
rs2500084	0.86[ASN][1000 genomes]
rs2500088	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2500089	0.86[ASN][1000 genomes]
rs2500090	0.91[ASN][1000 genomes]
rs2500091	0.96[ASN][1000 genomes]
rs2500092	0.96[ASN][1000 genomes]
rs9396532	0.86[ASN][1000 genomes]
rs9396533	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023685	chr6:14514647-14838390	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1031668	chr6:14774036-15044308	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv538138	chr6:14774036-15044308	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 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	chr6:14785200-14792000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr6:14785600-14791800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:14785800-14792400	Weak transcription	Fetal Intestine Large	intestine
4	chr6:14787600-14792800	Enhancers	Fetal Lung	lung
5	chr6:14787800-14802600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:14788200-14791800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:14789000-14792800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:14789000-14798600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:14789200-14792600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr6:14789400-14792000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:14789800-14791800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr6:14790000-14791600	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr6:14790400-14792400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:14790600-14791600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:14790600-14796800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:14790800-14791600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:14790800-14791600	Weak transcription	NHDF-Ad	bronchial
18	chr6:14790800-14791800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:14790800-14792800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:14790800-14802400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:14791000-14793000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:14791000-14798400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:14791200-14793000	Enhancers	Colon Smooth Muscle	Colon
24	chr6:14791400-14792000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:14791400-14792000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:14791400-14792000	Enhancers	Rectal Smooth Muscle	rectum
27	chr6:14791400-14792600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr6:14791400-14793000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr6:14791400-14802600	Weak transcription	Fetal Muscle Leg	muscle

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