Variant report

Variant	rs6758141
Chromosome Location	chr2:178299505-178299506
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178127146..178129590-chr2:178297800..178300708,2	K562	blood:

Variant related genes	Relation type
ENSG00000222043	Chromatin interaction
ENSG00000116044	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10173667	1.00[AMR][1000 genomes]
rs10186918	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11892161	0.92[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11900380	1.00[AMR][1000 genomes]
rs13413244	1.00[AMR][1000 genomes]
rs13420517	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28552775	1.00[AMR][1000 genomes]
rs58936343	1.00[AMR][1000 genomes]
rs60692804	1.00[AMR][1000 genomes]
rs73976182	1.00[AMR][1000 genomes]
rs73976751	1.00[AMR][1000 genomes]
rs73979736	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9917195	1.00[AMR][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	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178287200-178300000	Weak transcription	Hela-S3	cervix
2	chr2:178287200-178310600	Weak transcription	Stomach Mucosa	stomach
3	chr2:178287600-178314200	Weak transcription	Gastric	stomach
4	chr2:178295400-178329800	Weak transcription	Pancreas	Pancrea
5	chr2:178295400-178330000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:178295400-178330200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:178295600-178306200	Weak transcription	Osteobl	bone
8	chr2:178296400-178397000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:178296600-178319800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:178296800-178306800	Weak transcription	Placenta	Placenta
11	chr2:178296800-178310000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:178297000-178306000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:178297000-178313400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:178297200-178315400	Strong transcription	HepG2	liver
15	chr2:178297800-178300200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:178297800-178301600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:178297800-178312800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:178297800-178314200	Weak transcription	Fetal Stomach	stomach
19	chr2:178297800-178319600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:178297800-178329800	Weak transcription	Ovary	ovary
21	chr2:178298000-178306400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:178298400-178301200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:178298400-178306200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:178298400-178308800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr2:178298400-178309800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:178298400-178314200	Weak transcription	Left Ventricle	heart
27	chr2:178298600-178307200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:178298800-178300000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:178298800-178301600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:178298800-178301600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:178298800-178302600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:178298800-178306800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:178298800-178309600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:178298800-178312600	Weak transcription	HSMMtube	muscle
35	chr2:178298800-178313600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:178298800-178313800	Strong transcription	Dnd41	blood
37	chr2:178298800-178314000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:178298800-178314000	Weak transcription	Fetal Intestine Small	intestine
39	chr2:178298800-178329200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:178298800-178329800	Weak transcription	Colonic Mucosa	Colon
41	chr2:178298800-178329800	Weak transcription	Thymus	Thymus
42	chr2:178298800-178330200	Weak transcription	Aorta	Aorta
43	chr2:178298800-178330200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:178298800-178331600	Weak transcription	NHDF-Ad	bronchial
45	chr2:178298800-178336800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:178298800-178357800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr2:178299000-178300000	Weak transcription	HSMM	muscle
48	chr2:178299000-178300200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:178299000-178300200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:178299000-178300400	Weak transcription	Primary T cells fromperipheralblood	blood

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