Variant report

Variant	rs376091323
Chromosome Location	chr17:66511778-66511779
allele	-/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:66451996..66456192-chr17:66506725..66511948,5	MCF-7	breast:
2	chr17:66507070..66510931-chr17:66511371..66513422,6	K562	blood:
3	chr17:66509822..66512031-chr17:66520719..66523833,3	K562	blood:
4	chr17:66509250..66511874-chr17:66538190..66540879,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108950	Chromatin interaction
ENSG00000070540	Chromatin interaction
ENSG00000108946	Chromatin interaction
ENSG00000269657	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934157	chr17:66511434-66511869	Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv932935	chr17:66511434-66518806	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv933839	chr17:66511434-66518903	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 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	chr17:66507400-66513600	Active TSS	Right Ventricle	heart
2	chr17:66507800-66511800	Active TSS	Stomach Smooth Muscle	stomach
3	chr17:66508000-66511800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr17:66508800-66511800	Active TSS	Right Atrium	heart
5	chr17:66509600-66513000	Weak transcription	Spleen	Spleen
6	chr17:66509600-66513400	Weak transcription	Gastric	stomach
7	chr17:66509600-66513600	Weak transcription	Esophagus	oesophagus
8	chr17:66509600-66525800	Weak transcription	Pancreas	Pancrea
9	chr17:66509800-66511800	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr17:66509800-66511800	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr17:66509800-66514200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:66510000-66511800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr17:66510000-66513400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr17:66510200-66512800	Weak transcription	Colonic Mucosa	Colon
15	chr17:66510200-66513400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr17:66510400-66511800	Enhancers	Fetal Brain Male	brain
17	chr17:66510400-66511800	Flanking Active TSS	HUVEC	blood vessel
18	chr17:66510800-66511800	Flanking Active TSS	Brain Angular Gyrus	brain
19	chr17:66510800-66511800	Genic enhancers	Hela-S3	cervix
20	chr17:66510800-66511800	Flanking Active TSS	NHLF	lung
21	chr17:66511000-66511800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:66511000-66511800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
23	chr17:66511000-66511800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr17:66511000-66511800	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr17:66511000-66511800	Enhancers	Lung	lung
26	chr17:66511000-66511800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
27	chr17:66511000-66511800	Flanking Active TSS	HMEC	breast
28	chr17:66511200-66511800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr17:66511200-66511800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
30	chr17:66511200-66511800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr17:66511200-66511800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
32	chr17:66511200-66511800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr17:66511200-66511800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
34	chr17:66511200-66511800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr17:66511200-66511800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr17:66511200-66511800	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
37	chr17:66511200-66511800	Flanking Active TSS	Fetal Brain Female	brain
38	chr17:66511200-66511800	Genic enhancers	Fetal Intestine Large	intestine
39	chr17:66511200-66511800	Strong transcription	Fetal Stomach	stomach
40	chr17:66511200-66511800	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr17:66511200-66511800	Transcr. at gene 5' and 3'	HSMM	muscle
42	chr17:66511200-66511800	Genic enhancers	Monocytes-CD14+_RO01746	blood
43	chr17:66511200-66512000	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr17:66511200-66512000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr17:66511200-66512000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr17:66511200-66512000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr17:66511200-66512200	Genic enhancers	Fetal Lung	lung
48	chr17:66511200-66512800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr17:66511200-66513200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr17:66511200-66513400	Weak transcription	Fetal Intestine Small	intestine

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