Variant report

Variant	rs34377509
Chromosome Location	chr6:30666396-30666397
allele	A/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	chr6:30665969-30667104	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:30666347-30666968	K562	blood:	n/a	n/a
3	POLR2A	chr6:30666395-30666492	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr6:30666210-30666609	K562	blood:	n/a	n/a
5	POLR2A	chr6:30666305-30666936	GM12892	blood:	n/a	n/a
6	POLR2A	chr6:30665548-30667181	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30634661..30668428-chr6:30680318..30698953,145	MCF-7	breast:

Variant related genes	Relation type
RPL7P4	TF binding region
MDC1-AS1	TF binding region
ENSG00000137337	Chromatin interaction
ENSG00000272540	Chromatin interaction
ENSG00000196230	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1264422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1264430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1264442	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[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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2517567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2534688	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[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]
rs9262167	0.83[EUR][1000 genomes]
rs9262217	0.83[EUR][1000 genomes]
rs9262222	0.83[EUR][1000 genomes]
rs9262223	0.83[EUR][1000 genomes]
rs9262225	0.83[EUR][1000 genomes]
rs9262234	0.83[EUR][1000 genomes]
rs9262239	0.83[EUR][1000 genomes]
rs9262242	0.83[EUR][1000 genomes]
rs9262256	0.83[EUR][1000 genomes]
rs9262257	1.00[EUR][1000 genomes]
rs9262268	0.83[EUR][1000 genomes]
rs9262270	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	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
2	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
3	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
4	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
5	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
6	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
7	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
8	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
9	nsv969377	chr6:30659579-30667545	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30658800-30668200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:30658800-30670200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:30658800-30670400	Weak transcription	Lung	lung
4	chr6:30659000-30669800	Weak transcription	Left Ventricle	heart
5	chr6:30659000-30670200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:30659000-30670200	Weak transcription	Esophagus	oesophagus
7	chr6:30659000-30670200	Weak transcription	Gastric	stomach
8	chr6:30659000-30670200	Weak transcription	Ovary	ovary
9	chr6:30659000-30670200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:30659000-30670200	Weak transcription	Spleen	Spleen
11	chr6:30659000-30670400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:30659000-30670800	Weak transcription	Right Ventricle	heart
13	chr6:30659200-30666400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:30659200-30667800	Weak transcription	Fetal Intestine Large	intestine
15	chr6:30659200-30668000	Weak transcription	Thymus	Thymus
16	chr6:30659200-30669800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:30659200-30670000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr6:30659200-30670200	Weak transcription	Colonic Mucosa	Colon
19	chr6:30659200-30670400	Weak transcription	Aorta	Aorta
20	chr6:30659200-30670400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr6:30659200-30673400	Weak transcription	Psoas Muscle	Psoas
22	chr6:30659200-30684200	Weak transcription	Right Atrium	heart
23	chr6:30659400-30666400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:30659400-30667600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr6:30659400-30667800	Weak transcription	Fetal Brain Female	brain
26	chr6:30659400-30669200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:30659400-30669200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr6:30659400-30670200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr6:30659400-30671000	Weak transcription	Colon Smooth Muscle	Colon
30	chr6:30659400-30672800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr6:30659400-30675800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr6:30659400-30684400	Weak transcription	Stomach Mucosa	stomach
33	chr6:30659600-30666400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:30659600-30666400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr6:30659600-30666400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:30659600-30666400	Weak transcription	Brain Hippocampus Middle	brain
37	chr6:30659600-30666600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr6:30659600-30666600	Weak transcription	Fetal Thymus	thymus
39	chr6:30659600-30666800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr6:30659600-30666800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr6:30659600-30667200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr6:30659600-30667200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:30659600-30667400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr6:30659600-30667400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:30659600-30667400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr6:30659600-30667600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr6:30659600-30667600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:30659600-30667600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr6:30659600-30667600	Weak transcription	Dnd41	blood
50	chr6:30659600-30667800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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