Variant report

Variant	rs2235880
Chromosome Location	chr6:80408882-80408883
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80408678..80410939-chr6:80416985..80419147,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1009742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1883878	0.91[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs2746314	0.85[CEU][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs2746317	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs2812701	0.88[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2812703	1.00[ASN][1000 genomes]
rs2812708	1.00[ASN][1000 genomes]
rs2812712	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];0.93[ASN][1000 genomes]
rs2812713	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs6927296	1.00[JPT][hapmap]
rs980225	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1021143	chr6:80400195-80598163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80373400-80412400	Weak transcription	Fetal Brain Male	brain
2	chr6:80382200-80411800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:80382600-80414800	Weak transcription	HUVEC	blood vessel
4	chr6:80382800-80413000	Weak transcription	Placenta	Placenta
5	chr6:80382800-80414000	Weak transcription	HSMM	muscle
6	chr6:80396800-80413600	Weak transcription	Ovary	ovary
7	chr6:80396800-80419800	Weak transcription	Right Ventricle	heart
8	chr6:80396800-80420000	Weak transcription	Lung	lung
9	chr6:80397600-80414400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr6:80397600-80416000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:80397800-80409200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:80397800-80412000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:80397800-80414200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr6:80397800-80416000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr6:80397800-80421400	Weak transcription	Pancreas	Pancrea
16	chr6:80398000-80421400	Weak transcription	Stomach Mucosa	stomach
17	chr6:80398200-80409400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr6:80398200-80421400	Weak transcription	Fetal Lung	lung
19	chr6:80398400-80409600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:80401000-80412000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:80402600-80414400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:80403600-80412200	Weak transcription	HSMMtube	muscle
23	chr6:80403800-80413000	Weak transcription	Colon Smooth Muscle	Colon
24	chr6:80404000-80409200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:80404000-80419800	Weak transcription	Gastric	stomach
26	chr6:80404200-80409200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:80404600-80409200	Weak transcription	Fetal Brain Female	brain
28	chr6:80404600-80412200	Weak transcription	Esophagus	oesophagus
29	chr6:80405000-80423800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr6:80405200-80412400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:80405400-80409600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:80405400-80421000	Weak transcription	Brain Anterior Caudate	brain
33	chr6:80405400-80421400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr6:80406200-80414200	Weak transcription	Colonic Mucosa	Colon
35	chr6:80406200-80421000	Weak transcription	Adipose Nuclei	Adipose
36	chr6:80406400-80417400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr6:80406400-80417600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr6:80407800-80409800	Strong transcription	HepG2	liver
39	chr6:80408000-80409400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr6:80408200-80409000	Weak transcription	Liver	Liver
41	chr6:80408200-80409000	Strong transcription	Fetal Stomach	stomach
42	chr6:80408200-80409800	Strong transcription	Fetal Intestine Large	intestine
43	chr6:80408200-80411400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr6:80408400-80409600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr6:80408400-80411000	Weak transcription	Brain Germinal Matrix	brain
46	chr6:80408400-80424000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:80408800-80409600	Strong transcription	Left Ventricle	heart
48	chr6:80408800-80422000	Weak transcription	Fetal Intestine Small	intestine

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