Variant report

Variant	rs527464594
Chromosome Location	chr6:119494374-119494375
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119484958..119487495-chr6:119493073..119495556,3	K562	blood:
2	chr6:119494035..119497097-chr6:119497840..119499702,3	K562	blood:
3	chr6:119476078..119477626-chr6:119493274..119495508,2	K562	blood:
4	chr6:119493505..119495006-chr6:119566194..119568932,2	K562	blood:

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

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	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv886570	chr6:119450888-119600556	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1017507	chr6:119465981-119664949	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv886571	chr6:119494199-119517239	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119484800-119499400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr6:119491200-119494600	Enhancers	K562	blood
3	chr6:119491200-119495400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:119491200-119495600	Enhancers	Fetal Lung	lung
5	chr6:119491800-119496800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:119491800-119500400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:119491800-119501000	Weak transcription	Fetal Intestine Large	intestine
8	chr6:119491800-119531200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr6:119492000-119494400	Weak transcription	Adipose Nuclei	Adipose
10	chr6:119492000-119494400	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:119492000-119507200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr6:119492200-119505400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:119492200-119527800	Weak transcription	NHEK	skin
14	chr6:119492400-119494800	Weak transcription	Stomach Mucosa	stomach
15	chr6:119492400-119494800	Enhancers	NHDF-Ad	bronchial
16	chr6:119492400-119498200	Weak transcription	Liver	Liver
17	chr6:119492400-119524200	Weak transcription	Fetal Stomach	stomach
18	chr6:119492600-119498200	Enhancers	HepG2	liver
19	chr6:119492600-119498600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:119492600-119500400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr6:119492600-119505600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:119492800-119494400	Weak transcription	Fetal Heart	heart
23	chr6:119493200-119495200	Enhancers	Hela-S3	cervix
24	chr6:119493400-119496400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:119493400-119500400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:119493600-119494600	Weak transcription	Colon Smooth Muscle	Colon
27	chr6:119493600-119518000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr6:119494000-119494800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:119494000-119495600	Enhancers	Fetal Kidney	kidney
30	chr6:119494000-119523600	Weak transcription	GM12878-XiMat	blood
31	chr6:119494200-119494400	Enhancers	Stomach Smooth Muscle	stomach
32	chr6:119494200-119496400	Weak transcription	NHLF	lung

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