Variant report

Variant	rs540681994
Chromosome Location	chr6:147385229-147385230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:147378504..147381290-chr6:147384397..147386277,3	K562	blood:
2	chr6:147378504..147381290-chr6:147384397..147386277,2	K562	blood:
3	chr6:147383491..147386446-chr6:147390287..147393281,3	K562	blood:
4	chr6:147382391..147386290-chr6:147386680..147389719,4	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	nsv1019245	chr6:147350834-147609776	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538467	chr6:147350834-147609776	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886751	chr6:147354092-147490398	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv823856	chr6:147384260-147393263	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147382800-147386800	Weak transcription	Stomach Mucosa	stomach
2	chr6:147384200-147385600	Enhancers	Osteobl	bone
3	chr6:147384400-147385400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:147384400-147385400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:147384400-147385400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:147384400-147385400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:147384400-147385400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:147384400-147385400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:147384400-147385400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:147384400-147385400	Enhancers	HSMM	muscle
11	chr6:147384400-147385400	Enhancers	NH-A	brain
12	chr6:147384400-147385400	Enhancers	NHEK	skin
13	chr6:147384400-147385600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:147384400-147385600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:147384400-147385600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:147384400-147385600	Enhancers	HMEC	breast
17	chr6:147384400-147385600	Enhancers	NHLF	lung
18	chr6:147384600-147385400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:147384600-147385400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr6:147384600-147385400	Enhancers	A549	lung
21	chr6:147384600-147385400	Enhancers	Hela-S3	cervix
22	chr6:147384600-147385400	Enhancers	HSMMtube	muscle
23	chr6:147385000-147385400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:147385000-147385400	Enhancers	Pancreas	Pancrea
25	chr6:147385000-147385600	Enhancers	NHDF-Ad	bronchial
26	chr6:147385200-147385600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:147385200-147386800	Weak transcription	K562	blood

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