Variant report

Variant	rs148060767
Chromosome Location	chr6:1702467-1702468
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:1702313..1705686-chr6:1707242..1710657,4	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024111	chr6:1231850-1730146	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1021924	chr6:1254891-1736995	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv538082	chr6:1254891-1736995	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
5	nsv491607	chr6:1580681-1951526	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1016594	chr6:1590030-1702529	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv530888	chr6:1605768-1739933	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv1015682	chr6:1661111-1717786	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv538092	chr6:1661111-1717786	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv432843	chr6:1694719-1725261	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv1020603	chr6:1697548-1921374	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv538093	chr6:1697548-1921374	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv1814339	chr6:1702106-1716710	Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1679600-1715600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:1688600-1706400	Weak transcription	Gastric	stomach
3	chr6:1690000-1715000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:1690400-1703200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:1693600-1718200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:1693800-1708400	Weak transcription	Fetal Intestine Small	intestine
7	chr6:1694000-1709400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr6:1694200-1724400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr6:1695400-1729400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:1695800-1731400	Weak transcription	Fetal Intestine Large	intestine
11	chr6:1696200-1705600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:1699400-1703200	Weak transcription	Lung	lung
13	chr6:1699800-1709200	Weak transcription	Spleen	Spleen
14	chr6:1699800-1716600	Weak transcription	Primary T cells from cord blood	blood
15	chr6:1700000-1703400	Enhancers	Fetal Muscle Leg	muscle
16	chr6:1700400-1702800	Weak transcription	Right Atrium	heart
17	chr6:1700600-1705800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:1700800-1703400	Enhancers	NHLF	lung
19	chr6:1701200-1749400	Weak transcription	Colonic Mucosa	Colon
20	chr6:1701400-1703200	Enhancers	NHDF-Ad	bronchial
21	chr6:1701600-1702600	Weak transcription	HepG2	liver
22	chr6:1701600-1703600	Enhancers	Adipose Nuclei	Adipose
23	chr6:1701600-1703600	Enhancers	Rectal Smooth Muscle	rectum
24	chr6:1701600-1703600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr6:1701600-1703800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:1701600-1704800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr6:1702000-1702600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:1702000-1702800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:1702000-1702800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:1702000-1703600	Enhancers	Fetal Muscle Trunk	muscle
31	chr6:1702000-1704000	Enhancers	Placenta	Placenta
32	chr6:1702200-1702600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr6:1702200-1702600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:1702200-1702600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr6:1702200-1702600	Active TSS	Stomach Smooth Muscle	stomach
36	chr6:1702200-1702600	Flanking Active TSS	HMEC	breast
37	chr6:1702200-1702600	Flanking Active TSS	NH-A	brain
38	chr6:1702200-1702800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr6:1702200-1702800	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr6:1702200-1702800	Enhancers	K562	blood
41	chr6:1702200-1703200	Enhancers	Fetal Heart	heart
42	chr6:1702200-1703800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:1702400-1702600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:1702400-1702600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:1702400-1702600	Active TSS	HSMMtube	muscle
46	chr6:1702400-1702800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:1702400-1702800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:1702400-1703000	Flanking Active TSS	HSMM	muscle
49	chr6:1702400-1703000	Flanking Active TSS	Osteobl	bone
50	chr6:1702400-1703200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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