Variant report

Variant	rs1264430
Chromosome Location	chr6:30564207-30564208
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30538811..30541540-chr6:30563433..30565153,2	MCF-7	breast:
2	chr6:30520003..30524347-chr6:30562819..30566209,4	MCF-7	breast:
3	chr6:30498826..30501960-chr6:30560554..30564366,3	MCF-7	breast:
4	chr6:30449909..30452819-chr6:30563358..30566713,3	K562	blood:
5	chr6:30449909..30451600-chr6:30563747..30566713,2	K562	blood:
6	chr6:30563905..30566621-chr6:30688616..30691051,2	K562	blood:

Variant related genes	Relation type
ENSG00000196230	Chromatin interaction
ENSG00000204574	Chromatin interaction
ENSG00000204590	Chromatin interaction

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

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

rs_ID	r²[population]
rs1264422	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	chr6:30541400-30567400	Weak transcription	Fetal Heart	heart
4	chr6:30541800-30565200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:30542200-30581800	Weak transcription	Right Atrium	heart
6	chr6:30554800-30569000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:30558000-30568400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:30558800-30565000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr6:30558800-30568400	Weak transcription	Esophagus	oesophagus
10	chr6:30558800-30569200	Weak transcription	Fetal Brain Male	brain
11	chr6:30559000-30568600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:30559000-30568800	Weak transcription	Small Intestine	intestine
13	chr6:30559200-30565000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:30559200-30568400	Weak transcription	Right Ventricle	heart
15	chr6:30559200-30568800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr6:30559200-30568800	Weak transcription	Stomach Mucosa	stomach
17	chr6:30559200-30569000	Weak transcription	Brain Angular Gyrus	brain
18	chr6:30559200-30569000	Weak transcription	Colon Smooth Muscle	Colon
19	chr6:30559600-30568400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr6:30560200-30568400	Weak transcription	Gastric	stomach
21	chr6:30560400-30568200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr6:30560400-30568400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr6:30560400-30568400	Weak transcription	NHDF-Ad	bronchial
24	chr6:30560400-30569400	Weak transcription	Psoas Muscle	Psoas
25	chr6:30560600-30565000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:30560600-30565000	Weak transcription	GM12878-XiMat	blood
27	chr6:30560600-30566600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:30560600-30568200	Weak transcription	A549	lung
29	chr6:30560600-30568400	Weak transcription	Brain Substantia Nigra	brain
30	chr6:30560600-30568400	Weak transcription	Colonic Mucosa	Colon
31	chr6:30560600-30568400	Weak transcription	Left Ventricle	heart
32	chr6:30560800-30568400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr6:30560800-30568400	Weak transcription	Brain Hippocampus Middle	brain
34	chr6:30560800-30568400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr6:30560800-30568400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr6:30560800-30569400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr6:30561200-30567200	Weak transcription	HUVEC	blood vessel
38	chr6:30561200-30568000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr6:30561400-30567400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr6:30562600-30568600	Weak transcription	HepG2	liver
41	chr6:30562600-30569200	Weak transcription	Fetal Kidney	kidney
42	chr6:30562800-30566600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:30562800-30566800	Weak transcription	Thymus	Thymus
44	chr6:30562800-30567400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr6:30562800-30568000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:30562800-30568000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:30562800-30568200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr6:30562800-30568200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr6:30562800-30568400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:30562800-30568400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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