Variant report

Variant	rs2234065
Chromosome Location	chr6:36355943-36355944
allele	A/C
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	ELF1	chr6:36354669-36356235	GM12878	blood:	n/a	chr6:36355140-36355151
2	TBL1XR1	chr6:36355859-36355954	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:36355929-36356031	MCF-7	breast:	n/a	n/a
4	POLR2A	chr6:36354331-36356285	GM12878	blood:	n/a	n/a
5	ZEB1	chr6:36354498-36355997	GM12878	blood:	n/a	n/a

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

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

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3778028	0.87[EUR][1000 genomes]
rs9470264	0.87[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	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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36354000-36356000	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr6:36354000-36356000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
3	chr6:36354000-36356000	Active TSS	Lung	lung
4	chr6:36354000-36356000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
5	chr6:36354000-36356200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr6:36354000-36356200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:36354000-36356200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:36354000-36356200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr6:36354000-36356200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr6:36354000-36356200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr6:36354000-36356200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
12	chr6:36354000-36356200	Flanking Bivalent TSS/Enh	HepG2	liver
13	chr6:36354000-36356400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr6:36354200-36356000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr6:36354200-36356000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
16	chr6:36354200-36356000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
17	chr6:36354200-36356000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
18	chr6:36354200-36356000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
19	chr6:36354200-36356000	Active TSS	Brain Hippocampus Middle	brain
20	chr6:36354200-36356000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
21	chr6:36354200-36356000	Active TSS	Gastric	stomach
22	chr6:36354200-36356200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr6:36354200-36356200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr6:36354200-36356200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr6:36354200-36356200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
26	chr6:36354200-36356200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
27	chr6:36354200-36356200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
28	chr6:36354200-36356200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:36354200-36356200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:36354200-36356200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
31	chr6:36354200-36356200	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr6:36354200-36356400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
33	chr6:36354400-36356000	Flanking Bivalent TSS/Enh	NH-A	brain
34	chr6:36354400-36356200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr6:36354400-36356200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:36354400-36356200	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
37	chr6:36354400-36356200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
38	chr6:36354400-36356400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
39	chr6:36354600-36356000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:36354600-36356000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:36354600-36356000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:36354600-36356000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
43	chr6:36354600-36356200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
44	chr6:36354600-36356200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr6:36354600-36356200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
46	chr6:36354600-36356200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr6:36354600-36356200	Flanking Active TSS	Colonic Mucosa	Colon
48	chr6:36354800-36356000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:36354800-36356000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
50	chr6:36354800-36356000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel

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