Variant report

Variant	rs192190574
Chromosome Location	chr16:70740987-70740988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70740784..70746452-chr16:70747278..70752169,9	K562	blood:
2	chr16:70739819..70742523-chr17:57918243..57919876,2	MCF-7	breast:
3	chr16:70735575..70742322-chr16:70778614..70782532,8	MCF-7	breast:
4	chr16:70739967..70742335-chr16:70770927..70772720,2	MCF-7	breast:
5	chr16:70737871..70744107-chr16:70778676..70782524,8	MCF-7	breast:
6	chr16:70737857..70741498-chr16:70742534..70745125,3	K562	blood:
7	chr16:70739016..70741749-chr16:70743376..70745387,3	K562	blood:

Variant related genes	Relation type
ENSG00000103043	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000260156	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv906875	chr16:70677785-70742536	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv906876	chr16:70677785-70757555	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv906877	chr16:70677785-70766378	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv906878	chr16:70677785-70782922	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv906879	chr16:70677785-70790831	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv906880	chr16:70677785-70796515	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv471094	chr16:70694000-70749970	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv906885	chr16:70696367-70742536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv1059226	chr16:70708698-70779144	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
13	nsv906888	chr16:70716742-70742536	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
14	nsv906889	chr16:70724001-70790831	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv906890	chr16:70740707-70790831	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70720400-70753200	Weak transcription	Primary B cells from cord blood	blood
2	chr16:70727000-70770800	Weak transcription	GM12878-XiMat	blood
3	chr16:70731400-70755000	Weak transcription	Small Intestine	intestine
4	chr16:70732000-70746600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr16:70732800-70741000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr16:70732800-70744400	Enhancers	Fetal Muscle Trunk	muscle
7	chr16:70732800-70745000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr16:70732800-70749600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr16:70733200-70759400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr16:70733400-70741000	Genic enhancers	Fetal Stomach	stomach
11	chr16:70733400-70742400	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr16:70733400-70743600	Enhancers	Placenta	Placenta
13	chr16:70733400-70754000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr16:70733600-70742400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr16:70733800-70742000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr16:70733800-70743400	Enhancers	Fetal Thymus	thymus
17	chr16:70733800-70744600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr16:70733800-70753400	Weak transcription	Dnd41	blood
19	chr16:70734000-70741800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr16:70734000-70742000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr16:70734000-70742200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr16:70734000-70742600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr16:70734000-70742600	Enhancers	Esophagus	oesophagus
24	chr16:70734200-70741800	Enhancers	NHLF	lung
25	chr16:70734600-70743200	Enhancers	HSMMtube	muscle
26	chr16:70734600-70751200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr16:70735000-70742000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr16:70735200-70742200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr16:70735200-70743600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr16:70735600-70741200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr16:70735600-70744600	Enhancers	HSMM	muscle
32	chr16:70735800-70744400	Enhancers	Thymus	Thymus
33	chr16:70736000-70741400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr16:70736000-70741400	Enhancers	Placenta Amnion	Placenta Amnion
35	chr16:70736000-70743600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr16:70736800-70741600	Genic enhancers	Fetal Intestine Small	intestine
37	chr16:70737000-70741000	Enhancers	Colon Smooth Muscle	Colon
38	chr16:70737000-70753800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr16:70737200-70743600	Enhancers	Rectal Smooth Muscle	rectum
40	chr16:70737400-70741800	Enhancers	Osteobl	bone
41	chr16:70737400-70742200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr16:70737800-70745600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr16:70738000-70741000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr16:70738000-70741000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr16:70738000-70741000	Weak transcription	Lung	lung
46	chr16:70738000-70742200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr16:70738000-70742400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr16:70738000-70746400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr16:70738000-70747000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr16:70738000-70748400	Weak transcription	Psoas Muscle	Psoas

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