Variant report

Variant	rs373968044
Chromosome Location	chr17:37617789-37617790
allele	A/G/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	TAF1	chr17:37617266-37618231	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr17:37617332-37618768	H1-neurons	neurons:	n/a	n/a
3	SIN3AK20	chr17:37617286-37618463	SK-N-SH	brain:	n/a	n/a
4	REST	chr17:37617634-37617889	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr17:37617476-37618586	K562	blood:	n/a	n/a
6	YY1	chr17:37617426-37617789	H1-hESC	embryonic stem cell:	n/a	n/a
7	JUN	chr17:37617379-37618155	K562	blood:	n/a	n/a
8	ZBTB33	chr17:37616826-37619498	A549	lung:	n/a	chr17:37617697-37617712
9	EP300	chr17:37617453-37617918	T-47D	breast:	n/a	n/a
10	TCF7L2	chr17:37617377-37617971	HEK293	kidney:	n/a	n/a
11	PML	chr17:37617306-37618299	K562	blood:	n/a	n/a
12	ZKSCAN1	chr17:37617354-37618170	Hela-S3	cervix:	n/a	n/a
13	TAF7	chr17:37617513-37618182	H1-hESC	embryonic stem cell:	n/a	n/a
14	TCF12	chr17:37617310-37618158	ECC-1	luminal epithelium:	n/a	chr17:37617747-37617754
15	TAF1	chr17:37617334-37617919	Hela-S3	cervix:	n/a	n/a
16	EP300	chr17:37617355-37617963	GM12878	blood:	n/a	chr17:37617446-37617460
17	EP300	chr17:37617414-37617813	SK-N-SH_RA	brain:	n/a	chr17:37617446-37617460
18	ZBTB33	chr17:37617272-37618219	HepG2	liver:	n/a	chr17:37617697-37617712
19	SIN3AK20	chr17:37617228-37618214	A549	lung:	n/a	n/a
20	TCF3	chr17:37617653-37617880	GM12878	blood:	n/a	n/a
21	POLR2A	chr17:37617408-37618257	K562	blood:	n/a	n/a
22	ELF1	chr17:37617271-37618155	A549	lung:	n/a	chr17:37618051-37618062
23	POLR2A	chr17:37617500-37618221	A549	lung:	n/a	n/a
24	RELA	chr17:37617372-37618066	GM19099	blood:	n/a	n/a
25	TAF1	chr17:37617489-37618241	H1-neurons	neurons:	n/a	n/a
26	USF1	chr17:37617321-37617881	A549	lung:	n/a	n/a
27	POLR2A	chr17:37617589-37618281	GM10847	blood:	n/a	n/a
28	YY1	chr17:37617462-37618188	HepG2	liver:	n/a	n/a
29	POLR2A	chr17:37617402-37618861	GM18951	blood:	n/a	n/a
30	TBP	chr17:37617381-37617908	Hela-S3	cervix:	n/a	n/a
31	TCF7L2	chr17:37617421-37617793	PANC-1	pancreas:	n/a	n/a
32	SP1	chr17:37617282-37617945	GM12878	blood:	n/a	chr17:37617721-37617730 chr17:37617920-37617934 chr17:37617721-37617731 chr17:37617720-37617732 chr17:37617721-37617735 chr17:37617720-37617732 chr17:37617722-37617731
33	MXI1	chr17:37617388-37618030	H1-hESC	embryonic stem cell:	n/a	n/a
34	NFIC	chr17:37617252-37617996	HepG2	liver:	n/a	n/a
35	POU2F2	chr17:37617372-37617973	GM12878	blood:	n/a	n/a
36	NR2F2	chr17:37617156-37618219	K562	blood:	n/a	n/a
37	POLR2A	chr17:37617503-37618226	MCF-7	breast:	n/a	n/a
38	MXI1	chr17:37617359-37618524	GM12878	blood:	n/a	n/a
39	POU2F2	chr17:37617425-37617897	GM12878	blood:	n/a	n/a
40	TAF1	chr17:37617407-37618019	GM12878	blood:	n/a	n/a
41	POLR2A	chr17:37617524-37619687	HepG2	liver:	n/a	n/a
42	FOS	chr17:37617460-37617824	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr17:37617488-37618667	MCF-7	breast:	n/a	n/a
44	MAX	chr17:37617461-37618779	K562	blood:	n/a	n/a
45	YY1	chr17:37617355-37617890	A549	lung:	n/a	n/a
46	MAX	chr17:37617343-37618108	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr17:37617550-37618673	GM12891	blood:	n/a	n/a
48	ZNF143	chr17:37617401-37618738	GM12878	blood:	n/a	chr17:37618015-37618025
49	SP1	chr17:37617175-37618693	A549	lung:	n/a	chr17:37617721-37617730 chr17:37618204-37618216 chr17:37618206-37618215 chr17:37617920-37617934 chr17:37617721-37617731 chr17:37617720-37617732 chr17:37617721-37617735 chr17:37617720-37617732 chr17:37618205-37618219 chr17:37618170-37618184 chr17:37617722-37617731
50	BHLHE40	chr17:37617335-37617999	GM12878	blood:	n/a	chr17:37617977-37617993

No.	Distal block	Cell Line	Cell type
1	chr17:37617615..37618129-chr17:56708677..56709544,2	Hela-S3	cervix:
2	chr17:37556913..37559429-chr17:37617747..37620632,2	K562	blood:
3	chr17:37604386..37611889-chr17:37616048..37620931,25	K562	blood:
4	chr17:37353026..37355461-chr17:37616658..37619340,2	MCF-7	breast:
5	chr17:37617317..37618153-chr5:40834782..40835378,3	Hela-S3	cervix:
6	chr17:37615177..37617856-chr19:59063174..59065856,2	MCF-7	breast:
7	chr15:50274598..50275298-chr17:37617590..37618180,2	NB4	blood:
8	chr17:37604313..37610125-chr17:37615155..37621784,15	MCF-7	breast:
9	chr17:37617575..37619643-chr17:37685798..37687650,2	K562	blood:
10	chr17:37617160..37618090-chr8:132915947..132916726,2	NB4	blood:
11	chr17:37605291..37610010-chr17:37614517..37620203,14	MCF-7	breast:
12	chr17:37604291..37611614-chr17:37614953..37621274,26	K562	blood:
13	chr17:37617445..37618229-chr3:58419043..58419552,2	Hela-S3	cervix:

Variant related genes	Relation type
CDK12	TF binding region
ENSG00000201086	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000108306	Chromatin interaction
ENSG00000067191	Chromatin interaction
ENSG00000132294	Chromatin interaction
ENSG00000266469	Chromatin interaction
ENSG00000130724	Chromatin interaction
ENSG00000167258	Chromatin interaction
ENSG00000125686	Chromatin interaction
ENSG00000168291	Chromatin interaction
ENSG00000145592	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
5	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
6	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv1057057	chr17:37395082-37627025	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
10	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
11	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv1063848	chr17:37575622-37707592	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
13	nsv827985	chr17:37617508-37619261	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37616800-37619200	Active TSS	Brain Hippocampus Middle	brain
2	chr17:37616800-37619200	Active TSS	A549	lung
3	chr17:37616800-37619600	Active TSS	Brain Anterior Caudate	brain
4	chr17:37616800-37620400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr17:37616800-37620400	Active TSS	Stomach Smooth Muscle	stomach
6	chr17:37617000-37617800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr17:37617000-37618400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:37617000-37618400	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr17:37617000-37618400	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr17:37617000-37618600	Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr17:37617000-37618600	Active TSS	Adipose Nuclei	Adipose
12	chr17:37617000-37618800	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr17:37617000-37618800	Active TSS	Duodenum Mucosa	Duodenum
14	chr17:37617000-37618800	Active TSS	Thymus	Thymus
15	chr17:37617000-37619000	Active TSS	Brain Substantia Nigra	brain
16	chr17:37617000-37619000	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr17:37617000-37619400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr17:37617000-37619400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr17:37617000-37619600	Active TSS	Monocytes-CD14+_RO01746	blood
20	chr17:37617000-37619800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:37617000-37619800	Active TSS	Colon Smooth Muscle	Colon
22	chr17:37617000-37619800	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr17:37617000-37620000	Active TSS	Fetal Kidney	kidney
24	chr17:37617000-37620000	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr17:37617000-37620000	Active TSS	Hela-S3	cervix
26	chr17:37617000-37620000	Active TSS	K562	blood
27	chr17:37617000-37620200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:37617000-37620200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr17:37617000-37620200	Active TSS	HSMM	muscle
30	chr17:37617000-37620200	Active TSS	Osteobl	bone
31	chr17:37617000-37620400	Active TSS	Fetal Thymus	thymus
32	chr17:37617000-37620400	Active TSS	Psoas Muscle	Psoas
33	chr17:37617000-37620600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr17:37617000-37620600	Active TSS	NHDF-Ad	bronchial
35	chr17:37617000-37621000	Active TSS	Colonic Mucosa	Colon
36	chr17:37617000-37621000	Active TSS	Fetal Intestine Small	intestine
37	chr17:37617000-37621200	Active TSS	Fetal Intestine Large	intestine
38	chr17:37617200-37617800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr17:37617200-37617800	Active TSS	Brain Germinal Matrix	brain
40	chr17:37617200-37618400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr17:37617200-37618400	Active TSS	Primary B cells from cord blood	blood
42	chr17:37617200-37618400	Active TSS	Primary hematopoietic stem cells	blood
43	chr17:37617200-37618400	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr17:37617200-37618600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr17:37617200-37618800	Active TSS	Primary T cells from cord blood	blood
46	chr17:37617200-37618800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr17:37617200-37619000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr17:37617200-37619000	Active TSS	Brain Cingulate Gyrus	brain
49	chr17:37617200-37619200	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr17:37617200-37619400	Active TSS	H9 Cell Line	embryonic stem cell

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