Variant report

Variant	rs4646549
Chromosome Location	chr15:58358607-58358608
allele	C/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	CTCF	chr15:58358538-58358831	MCF-7	breast:	n/a	chr15:58358678-58358691 chr15:58358676-58358694
2	JUND	chr15:58358553-58358858	H1-hESC	embryonic stem cell:	n/a	chr15:58358641-58358650
3	RCOR1	chr15:58358456-58358873	K562	blood:	n/a	n/a
4	JUND	chr15:58358456-58358873	A549	lung:	n/a	chr15:58358641-58358650
5	POLR2A	chr15:58357645-58359040	K562	blood:	n/a	n/a
6	HEY1	chr15:58357640-58358974	K562	blood:	n/a	chr15:58358050-58358065 chr15:58358166-58358181
7	CTCF	chr15:58358571-58358812	GM13976	blood:	n/a	chr15:58358678-58358691 chr15:58358676-58358694
8	TEAD4	chr15:58357581-58358918	K562	blood:	n/a	n/a
9	CTCF	chr15:58358563-58358811	GM13977	blood:	n/a	chr15:58358678-58358691 chr15:58358676-58358694
10	NR2F2	chr15:58358464-58358793	K562	blood:	n/a	n/a
11	CTCF	chr15:58358540-58358812	K562	blood:	n/a	chr15:58358678-58358691 chr15:58358676-58358694
12	CTCF	chr15:58358574-58358821	MCF-7	breast:	n/a	chr15:58358678-58358691 chr15:58358676-58358694
13	CTCF	chr15:58358541-58358859	SK-N-SH_RA	brain:	n/a	chr15:58358678-58358691 chr15:58358676-58358694
14	E2F6	chr15:58358402-58358918	A549	lung:	n/a	chr15:58358480-58358490
15	CTCF	chr15:58358488-58358838	Fibrobl	skin:	n/a	chr15:58358678-58358691 chr15:58358676-58358694
16	RAD21	chr15:58358414-58358924	H1-hESC	embryonic stem cell:	n/a	chr15:58358678-58358688 chr15:58358674-58358693 chr15:58358677-58358690 chr15:58358637-58358650 chr15:58358676-58358688
17	CTCF	chr15:58358553-58358827	H1-hESC	embryonic stem cell:	n/a	chr15:58358678-58358691 chr15:58358676-58358694
18	CTCF	chr15:58358600-58358750	MCF-7	breast:	n/a	chr15:58358678-58358691 chr15:58358676-58358694
19	UBTF	chr15:58356671-58358871	K562	blood:	n/a	n/a
20	CTCF	chr15:58358560-58358832	T-47D	breast:	n/a	chr15:58358678-58358691 chr15:58358676-58358694
21	CTCF	chr15:58358481-58358881	HepG2	liver:	n/a	chr15:58358678-58358691 chr15:58358676-58358694
22	CTCF	chr15:58358600-58358750	HFF-Myc	foreskin:	n/a	chr15:58358678-58358691 chr15:58358676-58358694
23	MAX	chr15:58357158-58358869	K562	blood:	n/a	n/a
24	CTCF	chr15:58358600-58358750	HCT-116	colon:	n/a	chr15:58358678-58358691 chr15:58358676-58358694
25	CTCF	chr15:58358551-58358827	GM12891	blood:	n/a	chr15:58358678-58358691 chr15:58358676-58358694
26	TAF7	chr15:58358559-58358794	K562	blood:	n/a	n/a
27	E2F4	chr15:58357209-58358827	K562	blood:	n/a	chr15:58358094-58358105 chr15:58358480-58358490
28	ZNF384	chr15:58358545-58358854	K562	blood:	n/a	n/a
29	CTCF	chr15:58358279-58359048	K562	blood:	n/a	chr15:58358678-58358691 chr15:58358986-58358994 chr15:58358676-58358694
30	E2F6	chr15:58358457-58358825	K562	blood:	n/a	chr15:58358480-58358490
31	RCOR1	chr15:58358502-58358816	K562	blood:	n/a	n/a
32	TBL1XR1	chr15:58358606-58358983	K562	blood:	n/a	n/a
33	CTCF	chr15:58358600-58358750	GM12875	blood:	n/a	chr15:58358678-58358691 chr15:58358676-58358694
34	YY1	chr15:58358552-58358790	GM12892	blood:	n/a	n/a
35	POLR2A	chr15:58357123-58358920	K562	blood:	n/a	n/a
36	CTCFL	chr15:58358573-58358735	K562	blood:	n/a	n/a
37	CTCFL	chr15:58358576-58358774	K562	blood:	n/a	n/a
38	CTCF	chr15:58358575-58358803	GM10248	blood:	n/a	chr15:58358678-58358691 chr15:58358676-58358694
39	ZNF143	chr15:58357998-58359113	K562	blood:	n/a	chr15:58358018-58358028
40	CTCF	chr15:58358485-58358878	MCF-7	breast:	n/a	chr15:58358678-58358691 chr15:58358676-58358694
41	TBP	chr15:58358401-58358841	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr15:58357099-58358871	K562	blood:	n/a	n/a
43	ZBTB7A	chr15:58358024-58358924	ECC-1	luminal epithelium:	n/a	n/a
44	CTCF	chr15:58358580-58358730	HCM	heart:	n/a	chr15:58358678-58358691 chr15:58358676-58358694
45	CHD2	chr15:58358549-58358710	K562	blood:	n/a	n/a
46	RAD21	chr15:58358390-58358904	HCT-116	colon:	n/a	chr15:58358678-58358688 chr15:58358674-58358693 chr15:58358677-58358690 chr15:58358637-58358650 chr15:58358676-58358688
47	CHD2	chr15:58358551-58358879	HepG2	liver:	n/a	n/a
48	CTCF	chr15:58358536-58358828	MCF-7	breast:	n/a	chr15:58358678-58358691 chr15:58358676-58358694
49	CTCF	chr15:58357960-58359251	SK-N-SH	brain:	n/a	chr15:58358678-58358691 chr15:58358986-58358994 chr15:58358676-58358694
50	CTCF	chr15:58358554-58358818	Pancreas_OC	pancreas:	n/a	chr15:58358678-58358691 chr15:58358676-58358694

No.	Distal block	Cell Line	Cell type
1	chr15:58306217..58308259-chr15:58356597..58358737,2	K562	blood:
2	chr15:58356974..58359469-chr15:60688408..60691704,3	K562	blood:
3	chr15:58328560..58331091-chr15:58356467..58358929,2	K562	blood:

Variant related genes	Relation type
ALDH1A2	TF binding region
ENSG00000182718	Chromatin interaction
ENSG00000128918	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10518961	0.90[ASN][1000 genomes]
rs11071363	0.90[ASN][1000 genomes]
rs11071364	0.90[ASN][1000 genomes]
rs11071367	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11629583	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11631127	0.83[ASN][1000 genomes]
rs11636979	0.86[ASN][1000 genomes]
rs11857465	0.87[ASN][1000 genomes]
rs12148281	0.87[ASN][1000 genomes]
rs12324197	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12594082	0.81[ASN][1000 genomes]
rs12595180	0.90[ASN][1000 genomes]
rs12595410	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12898976	0.85[ASN][1000 genomes]
rs12903724	0.87[ASN][1000 genomes]
rs12905608	0.87[ASN][1000 genomes]
rs12907125	0.87[ASN][1000 genomes]
rs12909423	0.87[ASN][1000 genomes]
rs12909865	0.87[ASN][1000 genomes]
rs12911450	0.88[ASN][1000 genomes]
rs12912093	0.90[ASN][1000 genomes]
rs12914388	0.86[ASN][1000 genomes]
rs12914414	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12914455	0.87[ASN][1000 genomes]
rs12914603	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12915508	0.86[ASN][1000 genomes]
rs12915821	0.87[ASN][1000 genomes]
rs12915989	0.87[ASN][1000 genomes]
rs12917536	0.87[ASN][1000 genomes]
rs1372369	0.87[ASN][1000 genomes]
rs1441815	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1441829	0.86[ASN][1000 genomes]
rs17820966	0.88[ASN][1000 genomes]
rs17820990	0.92[ASN][1000 genomes]
rs1822205	0.87[ASN][1000 genomes]
rs1837851	0.81[ASN][1000 genomes]
rs1899355	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1994926	0.90[ASN][1000 genomes]
rs1994927	0.90[ASN][1000 genomes]
rs2044071	0.83[ASN][1000 genomes]
rs2067062	0.89[ASN][1000 genomes]
rs2414529	0.88[ASN][1000 genomes]
rs2414530	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2642630	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2642632	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2642635	0.80[EUR][1000 genomes]
rs2704196	0.88[ASN][1000 genomes]
rs2704197	0.86[ASN][1000 genomes]
rs2704218	0.83[ASN][1000 genomes]
rs2704225	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2899611	0.88[ASN][1000 genomes]
rs2899612	0.90[ASN][1000 genomes]
rs2899613	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs33960206	0.87[ASN][1000 genomes]
rs34226780	0.87[ASN][1000 genomes]
rs34556514	0.90[ASN][1000 genomes]
rs34676542	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34958088	0.88[ASN][1000 genomes]
rs3784264	0.81[EUR][1000 genomes]
rs3809535	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4144005	0.87[ASN][1000 genomes]
rs4238327	0.90[ASN][1000 genomes]
rs4553566	0.90[ASN][1000 genomes]
rs4646554	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4646555	0.98[ASN][1000 genomes]
rs4646557	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4646559	0.97[ASN][1000 genomes]
rs4646560	0.94[ASN][1000 genomes]
rs4646564	0.93[ASN][1000 genomes]
rs4646566	0.91[ASN][1000 genomes]
rs4646570	0.90[ASN][1000 genomes]
rs4646579	0.90[ASN][1000 genomes]
rs4646580	0.90[ASN][1000 genomes]
rs4646581	0.87[ASN][1000 genomes]
rs4646582	0.87[ASN][1000 genomes]
rs4646584	0.86[ASN][1000 genomes]
rs4646588	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4646589	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4646590	0.87[ASN][1000 genomes]
rs4646592	0.87[ASN][1000 genomes]
rs4646594	0.87[ASN][1000 genomes]
rs4646595	0.87[ASN][1000 genomes]
rs4646596	0.87[ASN][1000 genomes]
rs4646597	0.87[ASN][1000 genomes]
rs4646598	0.87[ASN][1000 genomes]
rs4646600	0.87[ASN][1000 genomes]
rs4646602	0.87[ASN][1000 genomes]
rs4646603	0.87[ASN][1000 genomes]
rs4646605	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4646606	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4646607	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4646609	0.84[ASN][1000 genomes]
rs57975858	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6493977	0.88[ASN][1000 genomes]
rs6493978	0.88[ASN][1000 genomes]
rs6493979	0.90[ASN][1000 genomes]
rs6493980	0.93[ASN][1000 genomes]
rs6493981	0.93[ASN][1000 genomes]
rs66971399	0.88[ASN][1000 genomes]
rs7171261	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7171714	0.87[ASN][1000 genomes]
rs7178598	0.87[ASN][1000 genomes]
rs7180059	0.87[ASN][1000 genomes]
rs8023769	0.90[ASN][1000 genomes]
rs8026952	0.87[ASN][1000 genomes]
rs8027188	0.90[ASN][1000 genomes]
rs8027964	0.90[ASN][1000 genomes]
rs8032572	0.86[ASN][1000 genomes]
rs8041644	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9635346	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9635350	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038667	chr15:57933076-58481870	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv542400	chr15:57933076-58481870	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv904263	chr15:58340072-58437346	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv569596	chr15:58355798-58408763	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3427988	chr15:58356685-58359533	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58353400-58358800	Active TSS	K562	blood
2	chr15:58353600-58359000	Active TSS	Fetal Kidney	kidney
3	chr15:58354200-58358800	Active TSS	Ovary	ovary
4	chr15:58354400-58358800	Active TSS	Right Atrium	heart
5	chr15:58357000-58358800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr15:58357200-58358800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr15:58357200-58358800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr15:58357200-58358800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr15:58357200-58358800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr15:58357200-58358800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
11	chr15:58357200-58358800	Flanking Active TSS	Pancreas	Pancrea
12	chr15:58357200-58358800	Bivalent/Poised TSS	Psoas Muscle	Psoas
13	chr15:58357200-58359000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr15:58357200-58359200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr15:58357400-58358800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:58357400-58358800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr15:58357400-58358800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
18	chr15:58357400-58358800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
19	chr15:58357400-58358800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
20	chr15:58357400-58358800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
21	chr15:58357400-58358800	Bivalent Enhancer	Fetal Brain Male	brain
22	chr15:58357400-58358800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
23	chr15:58357400-58359000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr15:58357400-58359000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr15:58357600-58358800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr15:58357600-58358800	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr15:58357600-58358800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:58357600-58358800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr15:58357600-58358800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
30	chr15:58357600-58358800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
31	chr15:58357600-58358800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
32	chr15:58357600-58358800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
33	chr15:58357600-58359000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr15:58357600-58359000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr15:58357600-58359200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
36	chr15:58357800-58358800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
37	chr15:58357800-58358800	Bivalent/Poised TSS	HSMM	muscle
38	chr15:58358000-58358800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr15:58358000-58358800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:58358000-58358800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
41	chr15:58358000-58358800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr15:58358000-58358800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
43	chr15:58358000-58359000	Bivalent/Poised TSS	A549	lung
44	chr15:58358200-58358800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
45	chr15:58358200-58358800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
46	chr15:58358200-58358800	Bivalent/Poised TSS	HepG2	liver
47	chr15:58358200-58358800	Flanking Active TSS	HUVEC	blood vessel
48	chr15:58358200-58359000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
49	chr15:58358400-58358800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
50	chr15:58358400-58358800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum

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