Variant report

Variant	rs572164643
Chromosome Location	chr6:30730183-30730184
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30716396..30719291-chr6:30729856..30732825,2	K562	blood:
2	chr6:30729697..30732019-chr6:30764165..30766889,2	K562	blood:
3	chr6:30721626..30724111-chr6:30729705..30731621,2	K562	blood:
4	chr6:30709664..30712008-chr6:30729353..30731357,3	K562	blood:
5	chr6:30712126..30713657-chr6:30728620..30731118,2	K562	blood:

Variant related genes	Relation type
ENSG00000272273	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000263608	Chromatin interaction
ENSG00000137331	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
5	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases
6	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
7	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
8	nsv884100	chr6:30693816-30751326	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
9	nsv884101	chr6:30695920-30733121	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	163 gene(s)	inside rSNPs	diseases
10	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
11	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
12	nsv870418	chr6:30713196-30755668	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv527226	chr6:30716719-30772378	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
14	nsv884103	chr6:30729487-30755668	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30719800-30731600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr6:30720400-30731000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:30720600-30736600	Weak transcription	Gastric	stomach
4	chr6:30724000-30731400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:30725600-30731000	Weak transcription	Primary T cells from cord blood	blood
6	chr6:30726400-30730200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:30726800-30731000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:30726800-30739000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr6:30727200-30730200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:30727200-30730400	Enhancers	A549	lung
11	chr6:30727200-30731000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:30727200-30731000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr6:30727200-30731200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr6:30727200-30731200	Weak transcription	K562	blood
15	chr6:30727400-30731000	Enhancers	HepG2	liver
16	chr6:30727400-30731200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:30727600-30731200	Weak transcription	Fetal Stomach	stomach
18	chr6:30727800-30731000	Weak transcription	Fetal Intestine Small	intestine
19	chr6:30727800-30731400	Weak transcription	Fetal Muscle Leg	muscle
20	chr6:30728000-30731000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr6:30728000-30731200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:30728000-30731200	Weak transcription	Pancreas	Pancrea
23	chr6:30728000-30731200	Weak transcription	Right Atrium	heart
24	chr6:30728000-30731200	Weak transcription	HUVEC	blood vessel
25	chr6:30728000-30731400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:30728000-30731400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr6:30728000-30731600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:30728000-30731600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr6:30728000-30732800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:30728000-30737000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:30728200-30731000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:30728200-30731200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:30728200-30731200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:30728200-30731200	Weak transcription	Esophagus	oesophagus
35	chr6:30728200-30731200	Weak transcription	Placenta	Placenta
36	chr6:30728200-30731200	Weak transcription	Right Ventricle	heart
37	chr6:30728200-30731400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:30728200-30731400	Weak transcription	Left Ventricle	heart
39	chr6:30728200-30731400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr6:30728200-30731400	Weak transcription	HSMM	muscle
41	chr6:30728200-30731400	Weak transcription	NHLF	lung
42	chr6:30728200-30731600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:30728200-30731600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr6:30728200-30736400	Weak transcription	Lung	lung
45	chr6:30728200-30736600	Weak transcription	Aorta	Aorta
46	chr6:30728600-30731000	Weak transcription	Fetal Heart	heart
47	chr6:30728600-30731200	Weak transcription	NH-A	brain
48	chr6:30729200-30730200	Enhancers	H9 Cell Line	embryonic stem cell
49	chr6:30729200-30730200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr6:30729200-30731000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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