Variant report

Variant	rs1264422
Chromosome Location	chr6:30571997-30571998
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30564616-30573334	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr6:30571839-30572349	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr6:30571468-30572073	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr6:30570398-30573151	HepG2	liver:	n/a	n/a
5	POLR2A	chr6:30571934-30572198	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:30571694-30572101	K562	blood:	n/a	n/a
7	POLR2A	chr6:30571938-30572684	HepG2	liver:	n/a	n/a
8	POLR2A	chr6:30571786-30572580	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr6:30571739-30572643	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr6:30571966-30572047	A549	lung:	n/a	n/a
11	POLR2A	chr6:30571705-30572047	K562	blood:	n/a	n/a
12	POLR2A	chr6:30571490-30572199	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30571335..30573334-chr6:30711014..30713155,2	K562	blood:
2	chr6:30550158..30553147-chr6:30570256..30572566,2	MCF-7	breast:

Variant related genes	Relation type
PPP1R10	TF binding region
ENSG00000204574	Chromatin interaction
ENSG00000216101	Chromatin interaction
ENSG00000137331	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1264430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1264442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs14350	1.00[EUR][1000 genomes]
rs17195432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2252845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2394393	1.00[EUR][1000 genomes]
rs2429643	1.00[EUR][1000 genomes]
rs2517562	1.00[EUR][1000 genomes]
rs2517563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2517567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2534688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2844707	1.00[EUR][1000 genomes]
rs3094103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3094105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3094107	1.00[EUR][1000 genomes]
rs3129999	1.00[EUR][1000 genomes]
rs3130674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3130675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3132593	1.00[AMR][1000 genomes]
rs34377509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9262167	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
7	nsv884091	chr6:30526026-30590646	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	776 gene(s)	inside rSNPs	diseases
8	nsv5244	chr6:30545111-30589803	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	772 gene(s)	inside rSNPs	diseases
9	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30540200-30582200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:30540200-30582200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:30542200-30581800	Weak transcription	Right Atrium	heart
4	chr6:30564200-30577400	Strong transcription	Fetal Intestine Small	intestine
5	chr6:30566400-30581000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:30566600-30578000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:30566600-30579600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:30566800-30577600	Strong transcription	Osteobl	bone
9	chr6:30566800-30578400	Strong transcription	Thymus	Thymus
10	chr6:30567000-30573800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:30567000-30577800	Strong transcription	NH-A	brain
12	chr6:30567000-30579400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:30567000-30579600	Strong transcription	Fetal Muscle Trunk	muscle
14	chr6:30567200-30579600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:30567400-30577800	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr6:30567400-30578000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:30567400-30578000	Strong transcription	HSMM	muscle
18	chr6:30567400-30578200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:30567400-30578200	Strong transcription	Fetal Muscle Leg	muscle
20	chr6:30567400-30579000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr6:30567400-30579200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:30567400-30579800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:30567400-30580000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:30567400-30580200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:30567400-30580400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr6:30567600-30574000	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr6:30567600-30577000	Strong transcription	Stomach Smooth Muscle	stomach
28	chr6:30567600-30578400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:30567600-30580400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:30568000-30572000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:30568000-30574000	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr6:30568000-30576600	Strong transcription	Placenta	Placenta
33	chr6:30568000-30577600	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr6:30568000-30577800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr6:30568000-30578200	Strong transcription	Dnd41	blood
36	chr6:30568000-30580000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr6:30568000-30580200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:30568200-30575400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr6:30568200-30577000	Strong transcription	Primary B cells from cord blood	blood
40	chr6:30568200-30577200	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr6:30568200-30577400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:30568200-30577400	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr6:30568200-30577400	Strong transcription	HMEC	breast
44	chr6:30568200-30577400	Strong transcription	HSMMtube	muscle
45	chr6:30568200-30577800	Strong transcription	Fetal Intestine Large	intestine
46	chr6:30568200-30578000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr6:30568200-30579200	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr6:30568200-30579600	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr6:30568200-30579800	Strong transcription	A549	lung
50	chr6:30568200-30579800	Strong transcription	NHEK	skin

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