Variant report

Variant	rs374050958
Chromosome Location	chr17:38374845-38374846
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	POLR2A	chr17:38374600-38375848	SK-N-SH	brain:	n/a	n/a
2	TAF1	chr17:38374753-38376274	H1-neurons	neurons:	n/a	n/a
3	USF1	chr17:38374759-38375310	ECC-1	luminal epithelium:	n/a	n/a
4	USF1	chr17:38374793-38375210	ECC-1	luminal epithelium:	n/a	n/a
5	MYBL2	chr17:38374761-38375867	HepG2	liver:	n/a	n/a
6	TAF1	chr17:38374805-38376284	ECC-1	luminal epithelium:	n/a	n/a
7	YY1	chr17:38374831-38375805	GM12878	blood:	n/a	chr17:38375550-38375572 chr17:38375550-38375560 chr17:38375422-38375444
8	POLR2A	chr17:38374551-38376269	PANC-1	pancreas:	n/a	n/a
9	RUNX3	chr17:38374835-38375655	GM12878	blood:	n/a	n/a
10	POLR2A	chr17:38374726-38376312	GM12892	blood:	n/a	n/a
11	ATF2	chr17:38374809-38375561	H1-hESC	embryonic stem cell:	n/a	n/a
12	HCFC1	chr17:38374773-38376844	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr17:38374756-38375868	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr17:38374808-38376135	GM19193	blood:	n/a	n/a
15	TBP	chr17:38374768-38375595	GM12878	blood:	n/a	n/a
16	REST	chr17:38374584-38375600	A549	lung:	n/a	n/a
17	USF2	chr17:38374836-38375539	H1-hESC	embryonic stem cell:	n/a	n/a
18	CREB1	chr17:38374784-38375641	ECC-1	luminal epithelium:	n/a	n/a
19	RCOR1	chr17:38374536-38375673	K562	blood:	n/a	n/a
20	POLR2A	chr17:38374454-38376198	GM12891	blood:	n/a	n/a
21	USF1	chr17:38374762-38375137	K562	blood:	n/a	n/a
22	ATF3	chr17:38374577-38375131	A549	lung:	n/a	chr17:38375030-38375040 chr17:38375032-38375043 chr17:38375032-38375040
23	POLR2A	chr17:38374728-38376350	H1-neurons	neurons:	n/a	n/a
24	PML	chr17:38374779-38375725	GM12878	blood:	n/a	n/a
25	POLR2A	chr17:38374519-38376157	Raji	blood:	n/a	n/a
26	MAX	chr17:38374693-38375535	H1-hESC	embryonic stem cell:	n/a	chr17:38375071-38375080 chr17:38375075-38375084
27	ZNF143	chr17:38374629-38374870	K562	blood:	n/a	n/a
28	NFIC	chr17:38374733-38375629	GM12878	blood:	n/a	n/a
29	POLR2A	chr17:38374841-38375098	H1-hESC	embryonic stem cell:	n/a	n/a
30	FOSL2	chr17:38374774-38375596	A549	lung:	n/a	chr17:38374864-38374874 chr17:38374864-38374874 chr17:38374864-38374874 chr17:38374864-38374874
31	WRNIP1	chr17:38374832-38375530	GM12878	blood:	n/a	n/a
32	CREB1	chr17:38374748-38375911	GM12878	blood:	n/a	n/a
33	YY1	chr17:38374824-38376087	SK-N-SH	brain:	n/a	chr17:38375550-38375572 chr17:38375550-38375560 chr17:38375422-38375444
34	SIX5	chr17:38374475-38375770	A549	lung:	n/a	n/a
35	TCF12	chr17:38374791-38375876	A549	lung:	n/a	chr17:38375759-38375769
36	POLR2A	chr17:38374703-38376379	H1-neurons	neurons:	n/a	n/a
37	POLR2A	chr17:38374640-38375848	GM12878	blood:	n/a	n/a
38	SIN3A	chr17:38374601-38376449	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAZ	chr17:38374543-38376799	IMR90	lung:	n/a	chr17:38375071-38375080 chr17:38375753-38375763 chr17:38375075-38375084
40	POLR2A	chr17:38374843-38375625	GM12892	blood:	n/a	n/a
41	CREB1	chr17:38374739-38375933	H1-hESC	embryonic stem cell:	n/a	n/a
42	RUNX3	chr17:38374824-38375598	GM12878	blood:	n/a	n/a
43	POLR2A	chr17:38374828-38375147	GM12878	blood:	n/a	n/a
44	ZEB1	chr17:38374817-38375192	GM12878	blood:	n/a	chr17:38375019-38375028
45	RCOR1	chr17:38374605-38375590	K562	blood:	n/a	n/a
46	POLR2A	chr17:38374352-38375859	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr17:38374834-38375194	GM12892	blood:	n/a	n/a
48	MAX	chr17:38374311-38376592	A549	lung:	n/a	chr17:38375071-38375080 chr17:38375753-38375763 chr17:38375075-38375084
49	ATF2	chr17:38374806-38375488	GM12878	blood:	n/a	n/a
50	ELF1	chr17:38374844-38375806	GM12878	blood:	n/a	chr17:38375453-38375462

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
ENSG00000188895	Chromatin interaction
ENSG00000094804	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000131759	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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38366800-38375000	Weak transcription	HSMM	muscle
2	chr17:38374000-38375000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr17:38374000-38375000	Enhancers	Placenta	Placenta
4	chr17:38374200-38375000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr17:38374200-38375000	Enhancers	HepG2	liver
6	chr17:38374400-38375000	Flanking Active TSS	Brain Anterior Caudate	brain
7	chr17:38374400-38375000	Enhancers	Hela-S3	cervix
8	chr17:38374400-38375000	Enhancers	HMEC	breast
9	chr17:38374600-38375000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr17:38374600-38375000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr17:38374600-38375000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr17:38374600-38375000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr17:38374600-38375000	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr17:38374600-38375200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr17:38374600-38375200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr17:38374600-38375400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr17:38374600-38375400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr17:38374600-38375400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr17:38374600-38376200	Active TSS	Primary B cells from cord blood	blood
20	chr17:38374600-38376200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr17:38374600-38376800	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr17:38374600-38376800	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr17:38374600-38376800	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr17:38374600-38376800	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr17:38374600-38376800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr17:38374600-38376800	Active TSS	Brain Cingulate Gyrus	brain
27	chr17:38374600-38376800	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr17:38374600-38377800	Active TSS	Brain Angular Gyrus	brain
29	chr17:38374800-38375000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr17:38374800-38375000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr17:38374800-38375000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr17:38374800-38375000	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr17:38374800-38375000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr17:38374800-38375000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr17:38374800-38375000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr17:38374800-38375000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr17:38374800-38375000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr17:38374800-38375000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr17:38374800-38375000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr17:38374800-38375000	Active TSS	Adipose Nuclei	Adipose
41	chr17:38374800-38375000	Active TSS	Liver	Liver
42	chr17:38374800-38375000	Enhancers	Colon Smooth Muscle	Colon
43	chr17:38374800-38375000	Flanking Active TSS	Fetal Brain Male	brain
44	chr17:38374800-38375000	Enhancers	Fetal Intestine Small	intestine
45	chr17:38374800-38375000	Enhancers	Fetal Lung	lung
46	chr17:38374800-38375000	Enhancers	Fetal Muscle Trunk	muscle
47	chr17:38374800-38375000	Enhancers	Fetal Muscle Leg	muscle
48	chr17:38374800-38375000	Enhancers	Fetal Thymus	thymus
49	chr17:38374800-38375000	Enhancers	Left Ventricle	heart
50	chr17:38374800-38375000	Active TSS	Skeletal Muscle Male	skeletal muscle

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