Variant report

Variant	rs150508189
Chromosome Location	chr17:66538260-66538261
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:66535303-66540040	HepG2	liver:	n/a	n/a
2	POLR2A	chr17:66534614-66539539	GM12878	blood:	n/a	n/a
3	POLR2A	chr17:66533313-66538368	K562	blood:	n/a	n/a
4	POLR2A	chr17:66537905-66538416	HCT-116	colon:	n/a	n/a
5	POLR2A	chr17:66535238-66538921	HepG2	liver:	n/a	n/a
6	POLR2A	chr17:66538080-66538338	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr17:66537270-66538700	A549	lung:	n/a	n/a
8	POLR2A	chr17:66538069-66538794	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr17:66537945-66538465	H1-neurons	neurons:	n/a	n/a
10	FOSL2	chr17:66535224-66539318	HepG2	liver:	n/a	chr17:66536355-66536369 chr17:66537173-66537182
11	POLR2A	chr17:66538040-66538322	MCF-7	breast:	n/a	n/a
12	POLR2A	chr17:66537282-66538908	HepG2	liver:	n/a	n/a
13	POLR2A	chr17:66538040-66538351	A549	lung:	n/a	n/a
14	POLR2A	chr17:66538056-66538261	HCT-116	colon:	n/a	n/a
15	POLR2A	chr17:66538011-66538326	HepG2	liver:	n/a	n/a
16	POLR2A	chr17:66538112-66538283	A549	lung:	n/a	n/a
17	POLR2A	chr17:66537968-66539466	HepG2	liver:	n/a	n/a
18	POLR2A	chr17:66528378-66541028	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:66509250..66511874-chr17:66538190..66540879,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269657	TF binding region
FAM20A	TF binding region
ENSG00000108946	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	nsv833524	chr17:66524030-66705194	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv510723	chr17:66529668-66557425	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv522126	chr17:66538239-66548457	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66520400-66539800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr17:66523200-66542200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr17:66523600-66538800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr17:66525400-66538600	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr17:66526000-66539400	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr17:66526600-66539800	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr17:66526800-66540600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:66527600-66554200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr17:66527800-66538400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:66530800-66539200	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr17:66531200-66552400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr17:66531400-66538800	Strong transcription	Fetal Stomach	stomach
13	chr17:66531400-66539200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
14	chr17:66531400-66540000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr17:66531600-66538400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:66531800-66540000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr17:66532400-66538400	Weak transcription	HUVEC	blood vessel
18	chr17:66532400-66540200	Strong transcription	Osteobl	bone
19	chr17:66532800-66538400	Weak transcription	Brain Angular Gyrus	brain
20	chr17:66532800-66539600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:66533000-66555200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:66533200-66539200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr17:66533400-66538400	Strong transcription	Adipose Nuclei	Adipose
24	chr17:66533600-66539000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr17:66533800-66545400	Weak transcription	Psoas Muscle	Psoas
26	chr17:66533800-66549800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr17:66534000-66541400	Weak transcription	Colon Smooth Muscle	Colon
28	chr17:66534000-66541800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr17:66534000-66552800	Weak transcription	Fetal Kidney	kidney
30	chr17:66534200-66563200	Weak transcription	Ovary	ovary
31	chr17:66534600-66538800	Weak transcription	GM12878-XiMat	blood
32	chr17:66534600-66539800	Weak transcription	Primary B cells from cord blood	blood
33	chr17:66534800-66554200	Weak transcription	NHDF-Ad	bronchial
34	chr17:66535000-66540000	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr17:66535200-66542800	Weak transcription	Fetal Brain Female	brain
36	chr17:66535400-66538400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr17:66535400-66540200	Genic enhancers	Liver	Liver
38	chr17:66536200-66538800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr17:66536200-66539200	Weak transcription	Brain Substantia Nigra	brain
40	chr17:66536200-66540200	Weak transcription	Right Atrium	heart
41	chr17:66536400-66540000	Strong transcription	Fetal Muscle Leg	muscle
42	chr17:66536400-66541400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr17:66536600-66538800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr17:66536600-66539800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr17:66536600-66542600	Weak transcription	Pancreas	Pancrea
46	chr17:66536800-66538400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr17:66536800-66538400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr17:66536800-66538400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr17:66536800-66538400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr17:66536800-66538400	Weak transcription	HMEC	breast

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