Variant report

Variant	rs28631226
Chromosome Location	chr6:144731333-144731334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144730522..144732080-chr6:144737085..144739296,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs28402811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4538732	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912337	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920327	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920634	1.00[ASN][1000 genomes]
rs9484872	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9484875	0.92[AFR][1000 genomes]
rs9496962	0.90[AFR][1000 genomes]
rs9496963	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1023014	chr6:144717963-144806691	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv527525	chr6:144719765-144737670	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv886739	chr6:144719765-144796516	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144697200-144732600	Weak transcription	Gastric	stomach
2	chr6:144712600-144732600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:144719200-144736200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:144719400-144732400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:144719400-144737000	Weak transcription	Spleen	Spleen
6	chr6:144719600-144732400	Weak transcription	Fetal Thymus	thymus
7	chr6:144719600-144732600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:144719600-144732600	Weak transcription	Thymus	Thymus
9	chr6:144719600-144732800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:144719600-144736200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:144719600-144736400	Weak transcription	HSMM	muscle
12	chr6:144719600-144744000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:144719800-144732400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:144719800-144732400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr6:144719800-144743000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr6:144719800-144744400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:144720000-144732600	Weak transcription	GM12878-XiMat	blood
18	chr6:144720000-144743200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr6:144720000-144758200	Weak transcription	Fetal Intestine Small	intestine
20	chr6:144720200-144744000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:144721000-144732400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:144721000-144736200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:144721200-144732400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr6:144722400-144744000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr6:144723000-144736800	Weak transcription	Right Ventricle	heart
26	chr6:144723200-144735800	Weak transcription	Pancreas	Pancrea
27	chr6:144723200-144736800	Weak transcription	Lung	lung
28	chr6:144723200-144737000	Weak transcription	Right Atrium	heart
29	chr6:144723200-144743000	Weak transcription	Liver	Liver
30	chr6:144723400-144732400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr6:144725400-144732400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr6:144726400-144732400	Weak transcription	Primary T cells from cord blood	blood
33	chr6:144726800-144736200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr6:144726800-144745200	Weak transcription	Fetal Stomach	stomach
35	chr6:144727000-144743000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr6:144727200-144732400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr6:144727200-144732600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr6:144727400-144732200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr6:144727400-144743000	Weak transcription	Dnd41	blood
40	chr6:144728200-144744400	Weak transcription	Esophagus	oesophagus
41	chr6:144728400-144732400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr6:144728400-144732600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:144728400-144736000	Weak transcription	Fetal Heart	heart
44	chr6:144728400-144740000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr6:144728600-144736200	Weak transcription	HUVEC	blood vessel
46	chr6:144728600-144743800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr6:144729600-144732600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:144729600-144732800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr6:144729600-144743000	Weak transcription	Fetal Muscle Leg	muscle
50	chr6:144729600-144744000	Weak transcription	Ovary	ovary

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