Variant report

Variant	rs188506050
Chromosome Location	chr17:18216380-18216381
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:18216175-18216454	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:18204042..18206073-chr17:18215565..18218215,2	MCF-7	breast:
2	chr17:18207672..18211933-chr17:18214098..18218432,6	MCF-7	breast:
3	chr17:18185665..18188160-chr17:18215584..18219242,3	MCF-7	breast:
4	chr17:18159194..18166260-chr17:18215929..18222740,16	MCF-7	breast:
5	chr17:18156705..18166530-chr17:18215131..18220177,19	MCF-7	breast:

No data

Variant related genes	Relation type
SMCR8	TF binding region
ENSG00000177427	Chromatin interaction
ENSG00000177302	Chromatin interaction
ENSG00000177731	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	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription 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 miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
5	nsv833386	chr17:18170261-18332726	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1057081	chr17:18171516-18256347	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv543247	chr17:18171516-18256347	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1062368	chr17:18180747-18259234	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv833387	chr17:18200081-18378155	Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	esv1806346	chr17:18200081-18446384	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
11	esv1812661	chr17:18200081-18446384	Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv428333	chr17:18200081-18446384	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
13	nsv427992	chr17:18200081-19192047	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
14	nsv962274	chr17:18215705-18216580	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18172200-18217400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:18184800-18217000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr17:18196800-18217000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:18202200-18216600	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr17:18202400-18216400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr17:18202400-18216400	Strong transcription	Fetal Stomach	stomach
7	chr17:18202400-18216600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr17:18202400-18216600	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr17:18202400-18216600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr17:18202400-18216600	Strong transcription	Fetal Muscle Trunk	muscle
11	chr17:18203200-18216800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr17:18206800-18217000	Weak transcription	Stomach Mucosa	stomach
13	chr17:18208800-18217000	Weak transcription	Right Ventricle	heart
14	chr17:18210200-18217000	Weak transcription	Psoas Muscle	Psoas
15	chr17:18210600-18216400	Weak transcription	Small Intestine	intestine
16	chr17:18210600-18216600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr17:18210600-18217200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr17:18211200-18216400	Weak transcription	Primary B cells from cord blood	blood
19	chr17:18211200-18216800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr17:18211200-18217000	Weak transcription	Ovary	ovary
21	chr17:18211200-18217200	Weak transcription	Aorta	Aorta
22	chr17:18212200-18216400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr17:18212600-18216600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr17:18213800-18216400	Genic enhancers	Monocytes-CD14+_RO01746	blood
25	chr17:18214600-18216400	Strong transcription	Fetal Intestine Small	intestine
26	chr17:18214800-18216400	Strong transcription	NHEK	skin
27	chr17:18214800-18216600	Strong transcription	Brain Anterior Caudate	brain
28	chr17:18215000-18216400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
29	chr17:18215000-18216400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr17:18215000-18216600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr17:18215200-18216400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr17:18215200-18216600	Transcr. at gene 5' and 3'	Hela-S3	cervix
33	chr17:18215200-18216800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr17:18215200-18217000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
35	chr17:18215400-18216400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr17:18215400-18216400	Genic enhancers	Esophagus	oesophagus
37	chr17:18215400-18216400	Genic enhancers	Fetal Brain Male	brain
38	chr17:18215400-18216600	Genic enhancers	Stomach Smooth Muscle	stomach
39	chr17:18215400-18216600	Genic enhancers	K562	blood
40	chr17:18215400-18216800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr17:18215400-18217000	Genic enhancers	Fetal Muscle Leg	muscle
42	chr17:18215400-18217000	Enhancers	Gastric	stomach
43	chr17:18215400-18217200	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr17:18215400-18217200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr17:18215400-18217400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr17:18215400-18217400	Transcr. at gene 5' and 3'	Dnd41	blood
47	chr17:18215600-18216400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr17:18215600-18216400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr17:18215600-18216400	Genic enhancers	Thymus	Thymus
50	chr17:18215600-18216400	Genic enhancers	A549	lung

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