Variant report

Variant	rs2247548
Chromosome Location	chr6:14792349-14792350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:14788518..14793706-chr6:14794732..14798301,6	K562	blood:
2	chr6:14782718..14784387-chr6:14791933..14793560,2	K562	blood:
3	chr6:14787652..14790932-chr6:14791608..14794437,3	K562	blood:
4	chr6:14790824..14794391-chr6:14796656..14800219,3	MCF-7	breast:
5	chr6:14788518..14794395-chr6:14794732..14800573,9	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1014609	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs233497	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs233498	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs233499	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs233500	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs233501	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs233502	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs233503	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs233505	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs2472814	0.85[EUR][1000 genomes]
rs2472816	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2472817	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2500091	0.85[EUR][1000 genomes]
rs383984	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs415133	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs550573	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56871358	0.85[AFR][1000 genomes]
rs59090811	0.84[EUR][1000 genomes]
rs6935179	0.93[YRI][hapmap];0.83[AFR][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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14785800-14792400	Weak transcription	Fetal Intestine Large	intestine
2	chr6:14787600-14792800	Enhancers	Fetal Lung	lung
3	chr6:14787800-14802600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:14789000-14792800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr6:14789000-14798600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:14789200-14792600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr6:14790400-14792400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:14790600-14796800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:14790800-14792800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:14790800-14802400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:14791000-14793000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:14791000-14798400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:14791200-14793000	Enhancers	Colon Smooth Muscle	Colon
14	chr6:14791400-14792600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr6:14791400-14793000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr6:14791400-14802600	Weak transcription	Fetal Muscle Leg	muscle
17	chr6:14791600-14792800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr6:14791600-14792800	Enhancers	Fetal Stomach	stomach
19	chr6:14791600-14793200	Enhancers	NHDF-Ad	bronchial
20	chr6:14791800-14792800	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr6:14791800-14793000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:14791800-14793400	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr6:14791800-14797800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:14792000-14792400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:14792000-14792400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr6:14792000-14796600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:14792000-14797200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:14792000-14797800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr6:14792200-14792600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:14792200-14792600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:14792200-14793200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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