Variant report

Variant	rs210132
Chromosome Location	chr6:33536670-33536671
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33533712..33536819-chr6:33537641..33540205,3	MCF-7	breast:
2	chr6:33536613..33539410-chr6:33637420..33640374,2	K562	blood:
3	chr6:33533870..33536735-chr6:33537311..33539466,2	MCF-7	breast:
4	chr6:33517814..33520773-chr6:33534546..33536789,2	K562	blood:
5	chr6:33241430..33244166-chr6:33536289..33538432,2	K562	blood:

Variant related genes	Relation type
ENSG00000231500	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs210130	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs210133	0.82[CHB][hapmap];0.83[CHD][hapmap]
rs210157	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462896	chr6:33534880-33588147	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv602833	chr6:33534880-33588147	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs210132	PIM1	cis	parietal	SCAN
rs210132	CDKN1A	cis	parietal	SCAN
rs210132	PPARD	cis	parietal	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33516800-33537600	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr6:33530400-33536800	Weak transcription	K562	blood
3	chr6:33530400-33537600	Weak transcription	GM12878-XiMat	blood
4	chr6:33530400-33538800	Weak transcription	Esophagus	oesophagus
5	chr6:33531000-33538200	Weak transcription	Primary T cells from cord blood	blood
6	chr6:33531400-33538400	Weak transcription	Osteobl	bone
7	chr6:33533200-33538400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:33533200-33538600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:33533600-33537600	Weak transcription	Fetal Thymus	thymus
10	chr6:33533800-33538400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr6:33534200-33538600	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:33534400-33538400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:33534600-33538400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:33534600-33538600	Weak transcription	Fetal Intestine Small	intestine
15	chr6:33534600-33538800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr6:33534800-33537800	Weak transcription	Thymus	Thymus
17	chr6:33534800-33538400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:33534800-33538400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr6:33535000-33538200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:33535000-33538400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:33535000-33538600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:33535000-33538600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:33535000-33538600	Weak transcription	HMEC	breast
24	chr6:33535200-33538400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:33535200-33538400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr6:33535400-33538400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:33535600-33538400	Weak transcription	NHEK	skin
28	chr6:33535600-33538400	Weak transcription	NHLF	lung
29	chr6:33536000-33537800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr6:33536000-33538200	Weak transcription	Fetal Brain Male	brain
31	chr6:33536000-33538400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr6:33536000-33538400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:33536000-33538400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:33536000-33538400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr6:33536000-33538600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:33536000-33538600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:33536000-33538600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:33536200-33538400	Weak transcription	Brain Germinal Matrix	brain
39	chr6:33536200-33538400	Weak transcription	Fetal Heart	heart
40	chr6:33536200-33538600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:33536200-33538600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr6:33536400-33537000	Strong transcription	Fetal Stomach	stomach
43	chr6:33536600-33536800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr6:33536600-33537000	Enhancers	HepG2	liver
45	chr6:33536600-33538600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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