Variant report

Variant	rs200198310
Chromosome Location	chr17:38375413-38375414
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	chr17:38374978-38375814	U87	brain:	n/a	n/a
2	CTCF	chr17:38375380-38375530	GM12872	blood:	n/a	chr17:38375470-38375488 chr17:38375473-38375486 chr17:38375471-38375487
3	ZBTB7A	chr17:38375392-38376195	ECC-1	luminal epithelium:	n/a	n/a
4	TAF1	chr17:38375176-38375663	SK-N-SH	brain:	n/a	n/a
5	CUX1	chr17:38374987-38375591	K562	blood:	n/a	n/a
6	POLR2A	chr17:38375175-38375820	HUVEC	blood vessel:	n/a	n/a
7	YY1	chr17:38374925-38375733	SK-N-SH_RA	brain:	n/a	chr17:38375550-38375572 chr17:38375550-38375560 chr17:38375422-38375444
8	POLR2A	chr17:38374600-38375848	SK-N-SH	brain:	n/a	n/a
9	MAZ	chr17:38375031-38376279	K562	blood:	n/a	chr17:38375071-38375080 chr17:38375753-38375763 chr17:38375075-38375084
10	TAF1	chr17:38374753-38376274	H1-neurons	neurons:	n/a	n/a
11	PAX5	chr17:38375273-38375593	GM12878	blood:	n/a	n/a
12	NFIC	chr17:38375065-38375634	HepG2	liver:	n/a	n/a
13	CTCF	chr17:38375360-38375510	NHEK	skin:	n/a	chr17:38375470-38375488 chr17:38375473-38375486 chr17:38375471-38375487
14	CTCF	chr17:38375380-38375530	HL-60	blood:	n/a	chr17:38375470-38375488 chr17:38375473-38375486 chr17:38375471-38375487
15	TAF1	chr17:38375330-38375736	GM12878	blood:	n/a	n/a
16	CTCF	chr17:38375406-38375559	GM19239	blood:	n/a	chr17:38375470-38375488 chr17:38375473-38375486 chr17:38375471-38375487
17	MYC	chr17:38375356-38375557	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr17:38375324-38375490	A549	lung:	n/a	n/a
19	CTCF	chr17:38375340-38375490	WI-38	lung:	n/a	chr17:38375470-38375488 chr17:38375473-38375486 chr17:38375471-38375487
20	TBP	chr17:38375225-38375637	Hela-S3	cervix:	n/a	n/a
21	USF1	chr17:38374909-38375583	A549	lung:	n/a	n/a
22	POLR2A	chr17:38375158-38375829	K562	blood:	n/a	n/a
23	ETS1	chr17:38374934-38375875	A549	lung:	n/a	n/a
24	POLR2A	chr17:38375217-38375820	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr17:38375257-38375790	ECC-1	luminal epithelium:	n/a	n/a
26	CTCF	chr17:38375401-38375513	GM13977	blood:	n/a	chr17:38375470-38375488 chr17:38375473-38375486 chr17:38375471-38375487
27	TEAD4	chr17:38375278-38375653	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr17:38375400-38375550	AG04449	skin:	n/a	chr17:38375470-38375488 chr17:38375473-38375486 chr17:38375471-38375487
29	EP300	chr17:38374871-38376028	ECC-1	luminal epithelium:	n/a	chr17:38375530-38375544
30	MAX	chr17:38375272-38375858	K562	blood:	n/a	chr17:38375753-38375763
31	CTCF	chr17:38375326-38375607	HepG2	liver:	n/a	chr17:38375470-38375488 chr17:38375473-38375486 chr17:38375471-38375487
32	EP300	chr17:38375281-38375816	H1-hESC	embryonic stem cell:	n/a	chr17:38375530-38375544
33	CTCF	chr17:38375400-38375550	MCF-7	breast:	n/a	chr17:38375470-38375488 chr17:38375473-38375486 chr17:38375471-38375487
34	POLR2A	chr17:38375201-38376404	Hela-S3	cervix:	n/a	n/a
35	RFX5	chr17:38374936-38375623	Hela-S3	cervix:	n/a	chr17:38375069-38375077 chr17:38375070-38375085 chr17:38375070-38375085 chr17:38375067-38375082 chr17:38375070-38375085 chr17:38375069-38375086
36	GABPA	chr17:38375252-38375667	K562	blood:	n/a	chr17:38375497-38375508 chr17:38375497-38375506 chr17:38375410-38375417
37	MYBL2	chr17:38374761-38375867	HepG2	liver:	n/a	n/a
38	CTCF	chr17:38375360-38375510	NHLF	lung:	n/a	chr17:38375470-38375488 chr17:38375473-38375486 chr17:38375471-38375487
39	YY1	chr17:38375246-38375687	GM12891	blood:	n/a	chr17:38375550-38375572 chr17:38375550-38375560 chr17:38375422-38375444
40	TAF1	chr17:38374805-38376284	ECC-1	luminal epithelium:	n/a	n/a
41	CTCF	chr17:38375397-38375572	GM19238	blood:	n/a	chr17:38375470-38375488 chr17:38375473-38375486 chr17:38375471-38375487
42	POLR2A	chr17:38375281-38375847	GM12878	blood:	n/a	n/a
43	TCF7L2	chr17:38375346-38375502	Hela-S3	cervix:	n/a	n/a
44	TEAD4	chr17:38374969-38375699	HepG2	liver:	n/a	n/a
45	CTCF	chr17:38375380-38375530	SK-N-SH_RA	brain:	n/a	chr17:38375470-38375488 chr17:38375473-38375486 chr17:38375471-38375487
46	TBP	chr17:38374901-38375805	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr17:38375326-38375819	K562	blood:	n/a	n/a
48	TEAD4	chr17:38375110-38375879	ECC-1	luminal epithelium:	n/a	n/a
49	GABPA	chr17:38375144-38375907	MCF-7	breast:	n/a	chr17:38375497-38375508 chr17:38375497-38375506 chr17:38375410-38375417
50	ZBTB7A	chr17:38375346-38376292	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:38375413-38375463	SKMC	muscle:	n/a
2	chr17:38375413-38375463	NH-A	brain:	n/a
3	chr17:38375413-38375463	HEK293	kidney:	embryo
4	chr17:38375413-38375463	HIPEpiC	eye:	n/a
5	chr17:38375413-38375463	CMK	blood:	n/a
6	chr17:38375413-38375463	HepG2	liver:	n/a
7	chr17:38375413-38375463	Hela-S3	cervix:	n/a
8	chr17:38375413-38375463	GM12891	blood:	n/a
9	chr17:38375413-38375463	MCF-7	breast:	n/a
10	chr17:38375413-38375463	ProgFib	skin:	n/a
11	chr17:38375413-38375463	GM12892	blood:	n/a
12	chr17:38375413-38375463	ECC-1	luminal epithelium:	n/a
13	chr17:38375413-38375463	GM12878	blood:	n/a
14	chr17:38375413-38375463	GM19239	blood:	n/a
15	chr17:38375413-38375463	HUVEC	blood vessel:	n/a
16	chr17:38375413-38375463	HAEpiC	amniotic membrane:	n/a
17	chr17:38375413-38375463	T-47D	breast:	n/a
18	chr17:38375413-38375463	A549	lung:	n/a
19	chr17:38375413-38375463	AG09319	gingival:	n/a
20	chr17:38375413-38375463	BJ	skin:	n/a
21	chr17:38375413-38375463	HEEpiC	esophagus:	n/a
22	chr17:38375413-38375463	HCPEpiC	choroid plexus:	n/a
23	chr17:38375413-38375463	RPTEC	kidney:	n/a
24	chr17:38375413-38375463	Hepatocyte	liver:	n/a
25	chr17:38375413-38375463	AG04449	skin:	fetal
26	chr17:38375413-38375463	HL-60	blood:	n/a
27	chr17:38375413-38375463	SK-N-SH_RA	brain:	n/a
28	chr17:38375413-38375463	H1-hESC	embryonic stem cell:	embryo
29	chr17:38375413-38375463	NHDF-neo	bronchial:	n/a
30	chr17:38375413-38375463	Caco-2	colon:	n/a
31	chr17:38375413-38375463	BE2_C	brain:	n/a
32	chr17:38375413-38375463	HCM	heart:	n/a
33	chr17:38375413-38375463	SK-N-MC	brain:	n/a
34	chr17:38375413-38375463	AG10803	skin:	n/a
35	chr17:38375413-38375463	HCF	heart:	n/a
36	chr17:38375413-38375463	AG04450	lung:	fetal
37	chr17:38375413-38375463	HPAEpiC	pulmonary alveolar:	n/a
38	chr17:38375413-38375463	HMEC	breast:	n/a
39	chr17:38375413-38375463	GM06990	blood:	n/a
40	chr17:38375413-38375463	HRCEpiC	kidney:	n/a
41	chr17:38375413-38375463	PrEC	prostate:	n/a
42	chr17:38375413-38375463	ovcar-3	ovarian:	n/a
43	chr17:38375413-38375463	HNPCEpiC	eye:	n/a
44	chr17:38375413-38375463	HCT-116	colon:	n/a
45	chr17:38375413-38375463	SAEC	small airway:	n/a
46	chr17:38375413-38375463	PFSK-1	brain:	n/a
47	chr17:38375413-38375463	U87	brain:	n/a
48	chr17:38375413-38375463	K562	blood:	n/a
49	chr17:38375413-38375463	AG09309	skin:	n/a
50	chr17:38375413-38375463	Jurkat	blood:	n/a

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	chr17:38375087..38377704-chr17:38472815..38475239,3	MCF-7	breast:
6	chr17:38374332..38376938-chr17:38443051..38445440,2	MCF-7	breast:
7	chr17:38374207..38376996-chr17:38442281..38444578,5	K562	blood:
8	chr17:38373931..38375923-chr17:38445660..38448267,2	K562	blood:
9	chr17:38374494..38377034-chr17:38473243..38475629,2	K562	blood:

Variant related genes	Relation type
WIPF2	TF binding region
WIPF2	CpG island
ENSG00000094804	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000188895	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38374600-38376200	Active TSS	Primary B cells from cord blood	blood
2	chr17:38374600-38376200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr17:38374600-38376800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr17:38374600-38376800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr17:38374600-38376800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr17:38374600-38376800	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr17:38374600-38376800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr17:38374600-38376800	Active TSS	Brain Cingulate Gyrus	brain
9	chr17:38374600-38376800	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr17:38374600-38377800	Active TSS	Brain Angular Gyrus	brain
11	chr17:38374800-38375600	Active TSS	Brain Germinal Matrix	brain
12	chr17:38374800-38376000	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr17:38374800-38376400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr17:38374800-38376400	Active TSS	Brain Substantia Nigra	brain
15	chr17:38374800-38376400	Active TSS	Duodenum Mucosa	Duodenum
16	chr17:38374800-38376400	Active TSS	Fetal Brain Female	brain
17	chr17:38374800-38376400	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr17:38374800-38376600	Active TSS	H1 Cell Line	embryonic stem cell
19	chr17:38374800-38376600	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr17:38374800-38376600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr17:38374800-38376600	Active TSS	Colonic Mucosa	Colon
22	chr17:38374800-38376800	Active TSS	H9 Cell Line	embryonic stem cell
23	chr17:38374800-38376800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr17:38374800-38376800	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr17:38374800-38376800	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr17:38374800-38376800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr17:38374800-38376800	Active TSS	Fetal Kidney	kidney
28	chr17:38374800-38376800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr17:38374800-38376800	Active TSS	Rectal Smooth Muscle	rectum
30	chr17:38375000-38375600	Weak transcription	Spleen	Spleen
31	chr17:38375000-38376000	Active TSS	Primary hematopoietic stem cells	blood
32	chr17:38375000-38376000	Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr17:38375000-38376000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr17:38375000-38376000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr17:38375000-38376000	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr17:38375000-38376200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr17:38375000-38376200	Active TSS	Hela-S3	cervix
38	chr17:38375000-38376400	Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr17:38375000-38376400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr17:38375000-38376400	Active TSS	Brain Anterior Caudate	brain
41	chr17:38375000-38376400	Active TSS	Brain Hippocampus Middle	brain
42	chr17:38375000-38376400	Active TSS	Fetal Brain Male	brain
43	chr17:38375000-38376400	Active TSS	Fetal Stomach	stomach
44	chr17:38375000-38376400	Active TSS	Pancreas	Pancrea
45	chr17:38375000-38376400	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr17:38375000-38376600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr17:38375000-38376600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr17:38375000-38376600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr17:38375000-38376600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr17:38375000-38376600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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