Variant report

Variant	rs2072111
Chromosome Location	chr6:30364727-30364728
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30205760..30206880-chr6:30364359..30365320,6	K562	blood:
2	chr6:30325083..30325836-chr6:30364496..30366117,4	MCF-7	breast:
3	chr6:30205903..30206430-chr6:30364660..30365198,2	MCF-7	breast:
4	chr6:30070557..30071542-chr6:30364602..30365386,4	K562	blood:
5	chr6:30325032..30326080-chr6:30364681..30365329,7	MCF-7	breast:
6	chr6:30364310..30365862-chr6:30386384..30388997,2	MCF-7	breast:
7	chr6:30344008..30344969-chr6:30364258..30365252,4	MCF-7	breast:
8	chr6:30186670..30187594-chr6:30364355..30365372,7	K562	blood:
9	chr6:30325016..30326378-chr6:30364305..30365879,10	K562	blood:
10	chr6:30186843..30187585-chr6:30364587..30365117,2	MCF-7	breast:
11	chr6:30332081..30333027-chr6:30364533..30365885,7	MCF-7	breast:
12	chr6:30069286..30070342-chr6:30364378..30364933,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236475	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1264542	0.81[EUR][1000 genomes]
rs1264570	0.88[EUR][1000 genomes]
rs2516685	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2516688	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2524205	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3132623	0.81[AFR][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	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	nsv969293	chr6:30348821-30368580	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30363800-30364800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
2	chr6:30363800-30364800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:30364000-30365000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:30364000-30365200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr6:30364400-30364800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
6	chr6:30364400-30364800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
7	chr6:30364400-30364800	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
8	chr6:30364400-30364800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr6:30364400-30365000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:30364400-30365000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
11	chr6:30364400-30365000	Bivalent Enhancer	Placenta	Placenta
12	chr6:30364400-30365000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
13	chr6:30364400-30365200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr6:30364400-30365200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:30364600-30364800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:30364600-30364800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:30364600-30364800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
18	chr6:30364600-30364800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
19	chr6:30364600-30364800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
20	chr6:30364600-30364800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr6:30364600-30364800	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr6:30364600-30364800	Bivalent Enhancer	Fetal Stomach	stomach
23	chr6:30364600-30364800	Bivalent Enhancer	Fetal Thymus	thymus
24	chr6:30364600-30364800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
25	chr6:30364600-30364800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
26	chr6:30364600-30364800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
27	chr6:30364600-30364800	Bivalent Enhancer	Thymus	Thymus
28	chr6:30364600-30364800	Bivalent Enhancer	HSMM	muscle
29	chr6:30364600-30365000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr6:30364600-30365000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
31	chr6:30364600-30365000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:30364600-30365000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:30364600-30365000	Enhancers	Liver	Liver
34	chr6:30364600-30365000	Bivalent Enhancer	Fetal Intestine Small	intestine
35	chr6:30364600-30365000	Enhancers	Left Ventricle	heart
36	chr6:30364600-30365000	Enhancers	Right Atrium	heart
37	chr6:30364600-30365000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
38	chr6:30364600-30365000	Bivalent Enhancer	Stomach Mucosa	stomach
39	chr6:30364600-30365000	Bivalent Enhancer	Dnd41	blood
40	chr6:30364600-30365200	Enhancers	H1 Cell Line	embryonic stem cell
41	chr6:30364600-30365200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:30364600-30365200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr6:30364600-30365200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr6:30364600-30365200	Bivalent Enhancer	HepG2	liver
45	chr6:30364600-30365200	Enhancers	K562	blood
46	chr6:30364600-30365400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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