Variant report

Variant	rs233505
Chromosome Location	chr6:14798961-14798962
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:14777024..14778711-chr6:14797868..14799814,2	K562	blood:
2	chr6:14797001..14802228-chr6:14803331..14807791,8	K562	blood:
3	chr6:14788518..14794395-chr6:14794732..14800573,9	K562	blood:
4	chr6:14798686..14800365-chr6:14803406..14805204,2	MCF-7	breast:
5	chr6:14798903..14801568-chr6:15244532..15246539,2	MCF-7	breast:
6	chr6:14790824..14794391-chr6:14796656..14800219,3	MCF-7	breast:
7	chr6:14732898..14735132-chr6:14797546..14800169,2	K562	blood:

Variant related genes	Relation type
ENSG00000271888	Chromatin interaction
ENSG00000008083	Chromatin interaction

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

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

rs_ID	r²[population]
rs1014609	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs2247548	0.96[EUR][1000 genomes]
rs233497	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs233498	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs233499	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs233500	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs233501	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs233502	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs233503	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2472814	0.82[EUR][1000 genomes]
rs2472816	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2472817	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2500091	0.82[EUR][1000 genomes]
rs383984	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs415133	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs550573	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59090811	0.88[EUR][1000 genomes];0.88[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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14787800-14802600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:14790800-14802400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:14791400-14802600	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:14793600-14803800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:14796600-14799000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:14797600-14799400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:14797600-14799600	Enhancers	Dnd41	blood
8	chr6:14797600-14799600	Enhancers	K562	blood
9	chr6:14797800-14799000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr6:14797800-14799200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr6:14797800-14799200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:14797800-14799200	Enhancers	Ovary	ovary
13	chr6:14798000-14800200	Weak transcription	Fetal Thymus	thymus
14	chr6:14798000-14800400	Weak transcription	Adipose Nuclei	Adipose
15	chr6:14798000-14800600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:14798000-14804800	Weak transcription	Right Atrium	heart
17	chr6:14798400-14799200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:14798400-14799200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr6:14798600-14799000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:14798600-14799000	Enhancers	Placenta	Placenta
21	chr6:14798600-14799200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr6:14798600-14799200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:14798600-14799200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr6:14798600-14799200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr6:14798600-14799200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:14798600-14799200	Enhancers	Fetal Muscle Trunk	muscle
27	chr6:14798600-14799400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr6:14798600-14803800	Weak transcription	NHEK	skin
29	chr6:14798800-14802600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:14798800-14802600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:14798800-14804600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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