Variant report

Variant	rs4251785
Chromosome Location	chr17:34171590-34171591
allele	A/G
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	SP1	chr17:34171285-34172073	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr17:34171470-34172121	GM12878	blood:	n/a	n/a
3	POLR2A	chr17:34171546-34171866	K562	blood:	n/a	n/a
4	POLR2A	chr17:34171411-34172091	K562	blood:	n/a	n/a
5	POLR2A	chr17:34171540-34172112	HL-60	blood:	n/a	n/a
6	ZBTB33	chr17:34171539-34172098	K562	blood:	n/a	n/a
7	POLR2A	chr17:34171107-34172034	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr17:34171583-34172110	K562	blood:	n/a	n/a
9	POLR2A	chr17:34171566-34171828	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr17:34171123-34172032	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr17:34170605-34172062	K562	blood:	n/a	n/a

Variant related genes	Relation type
TAF15	TF binding region

rs_ID	r²[population]
rs2735480	0.90[JPT][hapmap]
rs2735482	0.90[JPT][hapmap]
rs4251766	0.89[ASN][1000 genomes]

SNP	Gene	Cis/trans	Tissue	Source
rs4251785	C17orf50	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34138600-34180800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:34138800-34184000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr17:34139200-34184200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:34139400-34177600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr17:34141600-34177400	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr17:34142000-34175800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr17:34142000-34177600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr17:34142400-34177600	Strong transcription	Fetal Thymus	thymus
9	chr17:34142400-34178200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:34142600-34173200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr17:34142600-34175600	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr17:34142600-34177400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr17:34142600-34180400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr17:34142800-34173200	Strong transcription	Osteobl	bone
15	chr17:34142800-34178600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr17:34142800-34180800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr17:34142800-34181000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr17:34143000-34174800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr17:34143000-34177400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr17:34143000-34177400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr17:34143400-34173200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr17:34144000-34175600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr17:34144000-34180000	Strong transcription	HSMM	muscle
24	chr17:34144800-34175800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr17:34144800-34178600	Strong transcription	Adipose Nuclei	Adipose
26	chr17:34145000-34177600	Strong transcription	Dnd41	blood
27	chr17:34145200-34174400	Strong transcription	Liver	Liver
28	chr17:34145200-34174400	Strong transcription	Fetal Intestine Large	intestine
29	chr17:34145200-34177400	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr17:34145800-34175600	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr17:34145800-34176400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr17:34145800-34176400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr17:34146000-34176400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr17:34146400-34177600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr17:34146600-34176400	Strong transcription	HUVEC	blood vessel
36	chr17:34147000-34175600	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr17:34147800-34177800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr17:34148200-34178800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr17:34148400-34173000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr17:34152600-34178800	Weak transcription	Fetal Heart	heart
41	chr17:34154400-34176800	Strong transcription	Fetal Brain Female	brain
42	chr17:34156600-34177400	Strong transcription	Primary B cells from cord blood	blood
43	chr17:34157000-34175200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr17:34157600-34172400	Strong transcription	Brain Germinal Matrix	brain
45	chr17:34158000-34180400	Strong transcription	A549	lung
46	chr17:34158400-34180200	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr17:34159200-34177400	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr17:34159800-34175000	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr17:34159800-34177400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr17:34160200-34176200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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