Variant report

Variant	rs2234067
Chromosome Location	chr6:36355654-36355655
allele	G/T
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	E2F6	chr6:36355010-36355736	H1-hESC	embryonic stem cell:	n/a	chr6:36355414-36355421
2	MXI1	chr6:36355497-36355692	HepG2	liver:	n/a	n/a
3	CTBP2	chr6:36354563-36355741	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr6:36355540-36355690	HMEC	breast:	n/a	n/a
5	RUNX3	chr6:36355340-36355828	GM12878	blood:	n/a	n/a
6	RUNX3	chr6:36355312-36355787	GM12878	blood:	n/a	n/a
7	MAX	chr6:36354918-36355769	H1-hESC	embryonic stem cell:	n/a	n/a
8	ELF1	chr6:36354669-36356235	GM12878	blood:	n/a	chr6:36355140-36355151
9	CTCF	chr6:36355540-36355690	HepG2	liver:	n/a	n/a
10	SIN3A	chr6:36354307-36355805	H1-hESC	embryonic stem cell:	n/a	n/a
11	PAX5	chr6:36355399-36355711	GM12892	blood:	n/a	n/a
12	EBF1	chr6:36355291-36355799	GM12878	blood:	n/a	n/a
13	EBF1	chr6:36355399-36355790	GM12878	blood:	n/a	n/a
14	STAT1	chr6:36355258-36355773	K562	blood:	n/a	chr6:36355544-36355564 chr6:36355550-36355558 chr6:36355550-36355559 chr6:36355561-36355572 chr6:36355544-36355564 chr6:36355549-36355558
15	ZEB1	chr6:36354626-36355829	HepG2	liver:	n/a	n/a
16	IRF1	chr6:36355385-36355737	K562	blood:	n/a	chr6:36355553-36355573 chr6:36355559-36355572 chr6:36355558-36355572 chr6:36355559-36355572 chr6:36355558-36355575 chr6:36355561-36355572 chr6:36355559-36355572 chr6:36355555-36355569 chr6:36355557-36355571
17	POLR2A	chr6:36354942-36355791	GM18505	blood:	n/a	n/a
18	CTCF	chr6:36355540-36355690	SAEC	small airway:	n/a	n/a
19	POLR2A	chr6:36354331-36356285	GM12878	blood:	n/a	n/a
20	E2F6	chr6:36354857-36355869	H1-hESC	embryonic stem cell:	n/a	chr6:36355414-36355421 chr6:36354872-36354882
21	MTA3	chr6:36354826-36355919	GM12878	blood:	n/a	n/a
22	CTCF	chr6:36355520-36355670	NHLF	lung:	n/a	n/a
23	ZEB1	chr6:36354498-36355997	GM12878	blood:	n/a	n/a
24	ZEB1	chr6:36354976-36355714	GM12878	blood:	n/a	n/a
25	POLR2A	chr6:36355414-36355769	H1-neurons	neurons:	n/a	n/a
26	MAX	chr6:36355358-36355669	GM12878	blood:	n/a	n/a
27	PML	chr6:36355108-36355791	GM12878	blood:	n/a	n/a
28	EBF1	chr6:36355329-36355738	GM12878	blood:	n/a	n/a
29	STAT3	chr6:36355357-36355769	MCF10A-Er-Src	breast:	n/a	chr6:36355544-36355564 chr6:36355550-36355558 chr6:36355550-36355559 chr6:36355561-36355572 chr6:36355544-36355564 chr6:36355549-36355558

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:36352878..36356022-chr6:36409199..36411763,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCTD20-1	chr6:36355559-36355921	NONHSAT112215

Variant related genes	Relation type
ETV7	TF binding region
ENSG00000112078	Chromatin interaction
ENSG00000179165	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1885205	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1998266	0.86[EUR][1000 genomes]
rs4486005	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4713969	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7764323	0.86[ASN][1000 genomes]
rs879036	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs881648	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs916287	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][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	nsv428481	chr6:36219000-36365746	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv885806	chr6:36349890-36621178	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36353600-36355800	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr6:36353800-36355800	Active TSS	Aorta	Aorta
3	chr6:36354000-36355800	Active TSS	Brain Substantia Nigra	brain
4	chr6:36354000-36355800	Active TSS	Stomach Mucosa	stomach
5	chr6:36354000-36356000	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr6:36354000-36356000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
7	chr6:36354000-36356000	Active TSS	Lung	lung
8	chr6:36354000-36356000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
9	chr6:36354000-36356200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr6:36354000-36356200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:36354000-36356200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:36354000-36356200	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr6:36354000-36356200	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr6:36354000-36356200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr6:36354000-36356200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
16	chr6:36354000-36356200	Flanking Bivalent TSS/Enh	HepG2	liver
17	chr6:36354000-36356400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr6:36354200-36355800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:36354200-36355800	Active TSS	Colon Smooth Muscle	Colon
20	chr6:36354200-36355800	Active TSS	Duodenum Mucosa	Duodenum
21	chr6:36354200-36355800	Active TSS	Ovary	ovary
22	chr6:36354200-36355800	Active TSS	Pancreas	Pancrea
23	chr6:36354200-36356000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr6:36354200-36356000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
25	chr6:36354200-36356000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
26	chr6:36354200-36356000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
27	chr6:36354200-36356000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
28	chr6:36354200-36356000	Active TSS	Brain Hippocampus Middle	brain
29	chr6:36354200-36356000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
30	chr6:36354200-36356000	Active TSS	Gastric	stomach
31	chr6:36354200-36356200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
32	chr6:36354200-36356200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr6:36354200-36356200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr6:36354200-36356200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
35	chr6:36354200-36356200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
36	chr6:36354200-36356200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
37	chr6:36354200-36356200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:36354200-36356200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:36354200-36356200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
40	chr6:36354200-36356200	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr6:36354200-36356400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
42	chr6:36354400-36355800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:36354400-36355800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
44	chr6:36354400-36356000	Flanking Bivalent TSS/Enh	NH-A	brain
45	chr6:36354400-36356200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr6:36354400-36356200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr6:36354400-36356200	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:36354400-36356200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
49	chr6:36354400-36356400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
50	chr6:36354600-36355800	Flanking Active TSS	Left Ventricle	heart

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