Variant report

Variant	rs557178388
Chromosome Location	chr17:19769633-19769634
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19769588..19772074-chr17:19879592..19882526,4	MCF-7	breast:
2	chr17:19752348..19754374-chr17:19768940..19771870,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108599	Chromatin interaction
ENSG00000083290	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv482398	chr17:19673458-19808039	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1057469	chr17:19696714-19787062	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3371214	chr17:19768660-19773258	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv3402031	chr17:19769585-19772133	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19673800-19769800	Weak transcription	NH-A	brain
2	chr17:19700800-19769800	Weak transcription	HSMMtube	muscle
3	chr17:19701000-19770000	Weak transcription	Colonic Mucosa	Colon
4	chr17:19703800-19769800	Weak transcription	Psoas Muscle	Psoas
5	chr17:19704400-19770000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr17:19706800-19769800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr17:19712400-19769800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr17:19727800-19769800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr17:19728000-19770000	Weak transcription	Esophagus	oesophagus
10	chr17:19728200-19769800	Weak transcription	HSMM	muscle
11	chr17:19728200-19770000	Weak transcription	Pancreas	Pancrea
12	chr17:19728600-19769800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr17:19737600-19769800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:19742800-19769800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr17:19744000-19769800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr17:19744200-19770200	Weak transcription	Gastric	stomach
17	chr17:19747000-19769800	Weak transcription	NHDF-Ad	bronchial
18	chr17:19749600-19770000	Weak transcription	Right Ventricle	heart
19	chr17:19750000-19770000	Weak transcription	Left Ventricle	heart
20	chr17:19750200-19769800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr17:19750200-19770000	Weak transcription	Aorta	Aorta
22	chr17:19750400-19769800	Weak transcription	Liver	Liver
23	chr17:19750400-19769800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr17:19750800-19770200	Weak transcription	Spleen	Spleen
25	chr17:19751400-19769800	Weak transcription	Osteobl	bone
26	chr17:19751600-19769800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr17:19752800-19769800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr17:19755600-19770000	Weak transcription	Lung	lung
29	chr17:19757000-19769800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr17:19763200-19769800	Weak transcription	Ovary	ovary
31	chr17:19763200-19770000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:19763200-19770200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr17:19763400-19769800	Weak transcription	HMEC	breast
34	chr17:19763600-19769800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr17:19764400-19769800	Weak transcription	Fetal Kidney	kidney
36	chr17:19764600-19770000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr17:19764800-19770000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr17:19766400-19769800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr17:19766600-19769800	Weak transcription	Fetal Intestine Large	intestine
40	chr17:19767000-19769800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr17:19767200-19769800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr17:19767200-19769800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr17:19767600-19769800	Weak transcription	Fetal Stomach	stomach
44	chr17:19767800-19769800	Weak transcription	Fetal Intestine Small	intestine
45	chr17:19768200-19769800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr17:19768400-19769800	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr17:19768400-19769800	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr17:19768400-19769800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr17:19768400-19769800	Enhancers	Fetal Brain Male	brain
50	chr17:19768400-19769800	Enhancers	Fetal Lung	lung

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