Variant report

Variant	rs4134994
Chromosome Location	chr17:38443631-38443632
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	TCF12	chr17:38443629-38444485	A549	lung:	n/a	n/a
2	ZNF143	chr17:38443627-38444321	GM12878	blood:	n/a	chr17:38443852-38443871 chr17:38443848-38443866
3	POLR2A	chr17:38443559-38444467	GM12892	blood:	n/a	n/a
4	POLR2A	chr17:38443368-38444903	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr17:38443596-38444659	GM12892	blood:	n/a	n/a
6	TCF12	chr17:38443559-38444410	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr17:38443578-38444551	HCT-116	colon:	n/a	n/a
8	MAX	chr17:38443618-38444646	ECC-1	luminal epithelium:	n/a	chr17:38443756-38443765
9	POLR2A	chr17:38443567-38444657	HUVEC	blood vessel:	n/a	n/a
10	SIX5	chr17:38443204-38444637	A549	lung:	n/a	n/a
11	POLR2A	chr17:38443574-38444801	GM12892	blood:	n/a	n/a
12	POLR2A	chr17:38443489-38444618	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr17:38443558-38444781	GM12878	blood:	n/a	n/a
14	SP1	chr17:38443473-38444836	A549	lung:	n/a	chr17:38444077-38444098 chr17:38443945-38443956 chr17:38443992-38444013
15	YY1	chr17:38443625-38444472	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr17:38443586-38444730	HL-60	blood:	n/a	n/a
17	ZBTB33	chr17:38443482-38444394	A549	lung:	n/a	n/a
18	POU2F2	chr17:38443526-38444486	GM12878	blood:	n/a	chr17:38443760-38443767
19	POLR2A	chr17:38443578-38444580	PFSK-1	brain:	n/a	n/a
20	SP1	chr17:38443626-38444336	GM12878	blood:	n/a	chr17:38444077-38444098 chr17:38443945-38443956 chr17:38443992-38444013
21	TEAD4	chr17:38443514-38444392	HepG2	liver:	n/a	n/a
22	POLR2A	chr17:38443535-38444656	K562	blood:	n/a	n/a
23	POLR2A	chr17:38443581-38444463	HUVEC	blood vessel:	n/a	n/a
24	MYBL2	chr17:38443282-38444648	HepG2	liver:	n/a	n/a
25	NFIC	chr17:38443620-38444313	HepG2	liver:	n/a	chr17:38444040-38444068
26	POLR2A	chr17:38443584-38444423	HepG2	liver:	n/a	n/a
27	SIN3AK20	chr17:38443511-38444699	HCT-116	colon:	n/a	n/a
28	PML	chr17:38443416-38444648	GM12878	blood:	n/a	n/a
29	POLR2A	chr17:38443617-38444444	GM18505	blood:	n/a	n/a
30	POLR2A	chr17:38443592-38443959	HepG2	liver:	n/a	n/a
31	SIN3AK20	chr17:38443552-38444646	MCF-7	breast:	n/a	n/a
32	POLR2A	chr17:38443598-38444450	H1-neurons	neurons:	n/a	n/a
33	SIN3AK20	chr17:38443631-38444683	SK-N-SH	brain:	n/a	n/a
34	NFIC	chr17:38443572-38444563	GM12878	blood:	n/a	chr17:38444040-38444068
35	MAX	chr17:38443558-38444712	ECC-1	luminal epithelium:	n/a	chr17:38443756-38443765
36	FOXA2	chr17:38443574-38444452	A549	lung:	n/a	n/a
37	CREB1	chr17:38443491-38444503	HepG2	liver:	n/a	n/a
38	RUNX3	chr17:38443527-38444517	GM12878	blood:	n/a	n/a
39	POLR2A	chr17:38443538-38444429	U87	brain:	n/a	n/a
40	ETS1	chr17:38443531-38444584	A549	lung:	n/a	chr17:38443846-38443859
41	POU2F2	chr17:38443505-38444358	GM12891	blood:	n/a	chr17:38443760-38443767
42	HDAC2	chr17:38443506-38444366	HepG2	liver:	n/a	chr17:38444143-38444152
43	POLR2A	chr17:38443417-38444559	HUVEC	blood vessel:	n/a	n/a
44	REST	chr17:38443454-38444681	A549	lung:	n/a	chr17:38444585-38444595
45	TBP	chr17:38443561-38444653	K562	blood:	n/a	n/a
46	POLR2A	chr17:38443622-38444625	K562	blood:	n/a	n/a
47	TCF7L2	chr17:38443503-38444605	PANC-1	pancreas:	n/a	n/a
48	TCF12	chr17:38443458-38444786	A549	lung:	n/a	n/a
49	BCL3	chr17:38443533-38444253	GM12878	blood:	n/a	n/a
50	POLR2A	chr17:38443608-38445296	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:38442976..38445496-chr17:38498582..38500444,2	K562	blood:
2	chr17:38442694..38445300-chr17:42090996..42093788,2	K562	blood:
3	chr17:38442854..38446302-chr17:38456093..38459908,5	K562	blood:
4	chr17:38374332..38376938-chr17:38443051..38445440,2	MCF-7	breast:
5	chr17:38331593..38335002-chr17:38443466..38446781,3	MCF-7	breast:
6	chr17:38374160..38377020-chr17:38442777..38445786,6	K562	blood:
7	chr17:38442528..38445834-chr17:38472414..38479758,11	K562	blood:
8	chr17:38374207..38376996-chr17:38442281..38444578,5	K562	blood:
9	chr17:38435998..38438899-chr17:38441789..38443816,3	K562	blood:

Variant related genes	Relation type
CDC6	TF binding region
ENSG00000108352	Chromatin interaction
ENSG00000091947	Chromatin interaction
ENSG00000270145	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000265666	Chromatin interaction
ENSG00000171475	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11078939	0.92[EUR][1000 genomes]
rs12051734	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12103711	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12946680	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13706	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1807273	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2077464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2120200	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35286757	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36030243	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4077125	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4566234	0.92[EUR][1000 genomes]
rs55656553	0.90[ASN][1000 genomes]
rs55835834	0.90[EUR][1000 genomes]
rs57179137	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58822685	0.85[EUR][1000 genomes]
rs59018914	0.90[EUR][1000 genomes]
rs59490243	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59861136	0.81[EUR][1000 genomes]
rs60220138	0.84[EUR][1000 genomes]
rs6503539	0.90[EUR][1000 genomes]
rs7217852	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72836634	0.88[EUR][1000 genomes]
rs72836640	0.90[EUR][1000 genomes]
rs72836651	0.84[EUR][1000 genomes]
rs72836653	0.84[EUR][1000 genomes]
rs72836656	0.85[EUR][1000 genomes]
rs72836660	0.85[EUR][1000 genomes]
rs73983025	0.85[EUR][1000 genomes]
rs8078226	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8080931	0.92[EUR][1000 genomes]
rs9303285	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9303286	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9891694	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9891718	0.90[EUR][1000 genomes]
rs9892946	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9894625	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9895163	0.92[EUR][1000 genomes]
rs9896312	0.83[ASN][1000 genomes]
rs9904021	0.92[EUR][1000 genomes]
rs9904270	0.89[ASN][1000 genomes]
rs9908034	0.92[EUR][1000 genomes]
rs9908257	0.85[EUR][1000 genomes]
rs9910197	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9910788	0.84[AMR][1000 genomes]
rs9911840	0.92[EUR][1000 genomes]
rs9912082	0.92[EUR][1000 genomes]
rs9914531	0.84[EUR][1000 genomes]
rs9916460	0.85[EUR][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38435800-38444200	Weak transcription	Aorta	Aorta
2	chr17:38438400-38444000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr17:38438800-38444000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr17:38441600-38444000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr17:38441800-38443800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr17:38442600-38444000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr17:38443200-38443800	Flanking Active TSS	Dnd41	blood
8	chr17:38443400-38443800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr17:38443400-38443800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr17:38443400-38443800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr17:38443400-38443800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr17:38443400-38443800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr17:38443400-38443800	Flanking Active TSS	Brain Angular Gyrus	brain
14	chr17:38443400-38443800	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr17:38443400-38443800	Flanking Active TSS	Brain Cingulate Gyrus	brain
16	chr17:38443400-38443800	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr17:38443400-38443800	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr17:38443400-38444000	Enhancers	Primary B cells from peripheral blood	blood
19	chr17:38443400-38444200	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr17:38443400-38445400	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr17:38443600-38443800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr17:38443600-38443800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
23	chr17:38443600-38443800	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr17:38443600-38443800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr17:38443600-38443800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:38443600-38443800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
27	chr17:38443600-38443800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:38443600-38443800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr17:38443600-38443800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr17:38443600-38443800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr17:38443600-38443800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr17:38443600-38443800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr17:38443600-38443800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr17:38443600-38443800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr17:38443600-38443800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr17:38443600-38443800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr17:38443600-38443800	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr17:38443600-38443800	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr17:38443600-38443800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr17:38443600-38443800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr17:38443600-38443800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr17:38443600-38443800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr17:38443600-38443800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr17:38443600-38443800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr17:38443600-38443800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr17:38443600-38443800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr17:38443600-38443800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr17:38443600-38443800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr17:38443600-38443800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr17:38443600-38443800	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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