Variant report

Variant	rs118137591
Chromosome Location	chr6:44008480-44008481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44007005..44011149-chr6:44017197..44020435,5	MCF-7	breast:
2	chr6:44007443..44009968-chr6:44021480..44024276,2	MCF-7	breast:
3	chr6:44000324..44004665-chr6:44006537..44011128,6	K562	blood:
4	chr6:43981979..43983492-chr6:44007271..44008971,2	K562	blood:
5	chr6:44007038..44009645-chr6:44014380..44015975,2	MCF-7	breast:
6	chr6:43991580..43993186-chr6:44007250..44009917,2	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	esv19546	chr6:44008476-44011596	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:43979400-44010400	Weak transcription	Pancreas	Pancrea
2	chr6:43988600-44009200	Weak transcription	Right Atrium	heart
3	chr6:43993200-44009000	Weak transcription	Esophagus	oesophagus
4	chr6:44002400-44010200	Weak transcription	Right Ventricle	heart
5	chr6:44003400-44008600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:44004200-44013200	Weak transcription	Lung	lung
7	chr6:44004400-44009000	Weak transcription	Spleen	Spleen
8	chr6:44004400-44009000	Weak transcription	HSMMtube	muscle
9	chr6:44004600-44008600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:44004600-44009000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:44004600-44009200	Weak transcription	Fetal Kidney	kidney
12	chr6:44004600-44009200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:44005200-44009000	Weak transcription	Fetal Intestine Small	intestine
14	chr6:44005600-44009200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr6:44005800-44011600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:44005800-44036800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr6:44006000-44009000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr6:44006000-44011600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:44006200-44009000	Enhancers	Hela-S3	cervix
20	chr6:44006200-44012400	Enhancers	HMEC	breast
21	chr6:44006400-44011800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:44006400-44012400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:44006600-44011600	Enhancers	NHEK	skin
24	chr6:44006600-44012400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:44006800-44009000	Enhancers	A549	lung
26	chr6:44006800-44009200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr6:44006800-44012000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:44006800-44012000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:44006800-44012200	Enhancers	Fetal Muscle Trunk	muscle
30	chr6:44006800-44015400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr6:44007000-44009000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr6:44007000-44009600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr6:44007200-44008600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:44007200-44009200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:44007400-44008600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr6:44007400-44009000	Enhancers	K562	blood
37	chr6:44007400-44009600	Enhancers	HSMM	muscle
38	chr6:44007800-44009600	Enhancers	NHLF	lung
39	chr6:44007800-44012200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:44007800-44012400	Enhancers	Fetal Stomach	stomach
41	chr6:44008000-44009000	Enhancers	NH-A	brain
42	chr6:44008000-44011400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr6:44008000-44012200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:44008000-44012200	Enhancers	Fetal Muscle Leg	muscle
45	chr6:44008000-44012600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:44008200-44008600	Bivalent Enhancer	HepG2	liver
47	chr6:44008200-44009000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr6:44008200-44009000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:44008200-44009000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr6:44008200-44009000	Enhancers	Colon Smooth Muscle	Colon

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