Variant report

Variant	rs545328350
Chromosome Location	chr17:38374657-38374658
allele	A/C
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	chr17:38374600-38375848	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr17:38374551-38376269	PANC-1	pancreas:	n/a	n/a
3	REST	chr17:38374584-38375600	A549	lung:	n/a	n/a
4	STAT3	chr17:38374610-38374712	GM12878	blood:	n/a	n/a
5	RCOR1	chr17:38374536-38375673	K562	blood:	n/a	n/a
6	POLR2A	chr17:38374454-38376198	GM12891	blood:	n/a	n/a
7	ATF3	chr17:38374577-38375131	A549	lung:	n/a	chr17:38375030-38375040 chr17:38375032-38375043 chr17:38375032-38375040
8	POLR2A	chr17:38374519-38376157	Raji	blood:	n/a	n/a
9	ZNF143	chr17:38374629-38374870	K562	blood:	n/a	n/a
10	SIX5	chr17:38374475-38375770	A549	lung:	n/a	n/a
11	POLR2A	chr17:38374640-38375848	GM12878	blood:	n/a	n/a
12	SIN3A	chr17:38374601-38376449	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAZ	chr17:38374543-38376799	IMR90	lung:	n/a	chr17:38375071-38375080 chr17:38375753-38375763 chr17:38375075-38375084
14	RCOR1	chr17:38374605-38375590	K562	blood:	n/a	n/a
15	POLR2A	chr17:38374352-38375859	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr17:38374520-38374670	HEK293	kidney:	n/a	n/a
17	MAX	chr17:38374311-38376592	A549	lung:	n/a	chr17:38375071-38375080 chr17:38375753-38375763 chr17:38375075-38375084
18	MXI1	chr17:38374610-38375603	H1-hESC	embryonic stem cell:	n/a	chr17:38375071-38375086 chr17:38375017-38375026 chr17:38375069-38375084
19	REST	chr17:38374227-38376585	H1-neurons	neurons:	n/a	n/a
20	KAP1	chr17:38374497-38375509	U2OS	brain:	n/a	n/a
21	MXI1	chr17:38374512-38376968	SK-N-SH	brain:	n/a	chr17:38375071-38375086 chr17:38375017-38375026 chr17:38375069-38375084
22	RFX5	chr17:38374118-38376771	SK-N-SH	brain:	n/a	chr17:38375069-38375077 chr17:38375070-38375085 chr17:38375070-38375085 chr17:38375067-38375082 chr17:38375070-38375085 chr17:38375069-38375086
23	CTCF	chr17:38374395-38375787	A549	lung:	n/a	chr17:38375470-38375488 chr17:38375473-38375486 chr17:38375471-38375487

No.	Distal block	Cell Line	Cell type
1	chr17:38374160..38377020-chr17:38442777..38445786,6	K562	blood:
2	chr17:38278214..38280293-chr17:38374121..38375969,2	K562	blood:
3	chr17:38374494..38376026-chr17:38472428..38474743,2	K562	blood:
4	chr17:38335879..38338134-chr17:38374200..38376894,2	MCF-7	breast:
5	chr17:38374332..38376938-chr17:38443051..38445440,2	MCF-7	breast:
6	chr17:38374207..38376996-chr17:38442281..38444578,5	K562	blood:
7	chr17:38373931..38375923-chr17:38445660..38448267,2	K562	blood:
8	chr17:38374494..38377034-chr17:38473243..38475629,2	K562	blood:

Variant related genes	Relation type
WIPF2	TF binding region
ENSG00000094804	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000188895	Chromatin interaction
ENSG00000108352	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	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv525796	chr17:38306365-38405037	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3325187	chr17:38374651-38377199	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38366800-38375000	Weak transcription	HSMM	muscle
2	chr17:38369600-38374800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr17:38373200-38374800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr17:38373400-38374800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr17:38374000-38375000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr17:38374000-38375000	Enhancers	Placenta	Placenta
7	chr17:38374200-38374800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr17:38374200-38374800	Weak transcription	Spleen	Spleen
9	chr17:38374200-38375000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr17:38374200-38375000	Enhancers	HepG2	liver
11	chr17:38374400-38374800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr17:38374400-38374800	Enhancers	Primary B cells from peripheral blood	blood
13	chr17:38374400-38374800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr17:38374400-38375000	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr17:38374400-38375000	Enhancers	Hela-S3	cervix
16	chr17:38374400-38375000	Enhancers	HMEC	breast
17	chr17:38374600-38374800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr17:38374600-38374800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:38374600-38374800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr17:38374600-38374800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr17:38374600-38374800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr17:38374600-38374800	Enhancers	Primary T cells from cord blood	blood
23	chr17:38374600-38374800	Enhancers	Primary T cells fromperipheralblood	blood
24	chr17:38374600-38374800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr17:38374600-38374800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr17:38374600-38374800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr17:38374600-38374800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr17:38374600-38374800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr17:38374600-38374800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr17:38374600-38374800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:38374600-38374800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr17:38374600-38374800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr17:38374600-38374800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr17:38374600-38374800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr17:38374600-38374800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr17:38374600-38374800	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr17:38374600-38374800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr17:38374600-38374800	Enhancers	Fetal Brain Male	brain
39	chr17:38374600-38374800	Flanking Active TSS	Fetal Brain Female	brain
40	chr17:38374600-38374800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr17:38374600-38374800	Enhancers	A549	lung
42	chr17:38374600-38374800	Enhancers	Dnd41	blood
43	chr17:38374600-38374800	Enhancers	GM12878-XiMat	blood
44	chr17:38374600-38374800	Enhancers	NH-A	brain
45	chr17:38374600-38374800	Enhancers	NHLF	lung
46	chr17:38374600-38375000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr17:38374600-38375000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr17:38374600-38375000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr17:38374600-38375000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr17:38374600-38375000	Flanking Active TSS	Brain Hippocampus Middle	brain

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