Variant report

Variant	rs73562286
Chromosome Location	chr19:45647032-45647033
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:45647020-45647170	SAEC	small airway:	n/a	n/a
2	CTCF	chr19:45647020-45647170	GM12868	blood:	n/a	n/a
3	CTCF	chr19:45646960-45647110	HFF-Myc	foreskin:	n/a	chr19:45646997-45647005
4	CTCF	chr19:45647020-45647170	SK-N-SH_RA	brain:	n/a	n/a
5	CTCF	chr19:45647000-45647150	MCF-7	breast:	n/a	n/a
6	POLR2A	chr19:45646777-45647042	K562	blood:	n/a	n/a
7	CTCF	chr19:45647000-45647150	A549	lung:	n/a	n/a
8	CTCF	chr19:45646900-45647050	HCT-116	colon:	n/a	chr19:45646997-45647005
9	CTCF	chr19:45647020-45647170	GM12874	blood:	n/a	n/a
10	CTCF	chr19:45646900-45647050	GM12867	blood:	n/a	chr19:45646997-45647005
11	CTCF	chr19:45646960-45647110	GM12864	blood:	n/a	chr19:45646997-45647005
12	CTCF	chr19:45646980-45647130	HFF	foreskin:	n/a	chr19:45646997-45647005
13	CTCF	chr19:45646960-45647110	HMF	breast:	n/a	chr19:45646997-45647005
14	CTCF	chr19:45646980-45647130	HRPEpiC	eye:	n/a	chr19:45646997-45647005
15	POLR2A	chr19:45646843-45647038	HepG2	liver:	n/a	n/a
16	CTCF	chr19:45646900-45647050	AG09309	skin:	n/a	chr19:45646997-45647005
17	CTCF	chr19:45646980-45647130	HPF	lung:	n/a	chr19:45646997-45647005
18	CTCF	chr19:45647020-45647170	HEK293	kidney:	n/a	n/a
19	CTCF	chr19:45646960-45647110	HUVEC	blood vessel:	n/a	chr19:45646997-45647005
20	CTCF	chr19:45647020-45647170	K562	blood:	n/a	n/a
21	CTCF	chr19:45646831-45647524	A549	lung:	n/a	chr19:45646997-45647005
22	CTCF	chr19:45647026-45647274	K562	blood:	n/a	n/a
23	CTCF	chr19:45646920-45647070	BE2_C	brain:	n/a	chr19:45646997-45647005
24	CTCF	chr19:45647027-45647277	K562	blood:	n/a	n/a
25	CTCF	chr19:45647020-45647170	GM12872	blood:	n/a	n/a
26	CTCF	chr19:45647020-45647170	HPAF	blood vessel:	n/a	n/a
27	CTCF	chr19:45647020-45647170	GM12873	blood:	n/a	n/a
28	CTCF	chr19:45647020-45647170	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr19:45647020-45647170	RPTEC	kidney:	n/a	n/a
30	CTCF	chr19:45647029-45647279	K562	blood:	n/a	n/a
31	CTCF	chr19:45647020-45647170	MCF-7	breast:	n/a	n/a
32	CTCF	chr19:45647000-45647150	HCM	heart:	n/a	n/a
33	CTCF	chr19:45646949-45647241	H1-hESC	embryonic stem cell:	n/a	chr19:45646997-45647005
34	CTCF	chr19:45647020-45647170	HEEpiC	esophagus:	n/a	n/a
35	CTCF	chr19:45647020-45647170	HRE	kidney:	n/a	n/a
36	ZNF384	chr19:45646989-45647284	K562	blood:	n/a	n/a
37	CTCF	chr19:45647020-45647170	HVMF	connective:	n/a	n/a
38	CTCF	chr19:45646940-45647090	HAc	cerebellar:	n/a	chr19:45646997-45647005
39	CTCF	chr19:45646980-45647130	HCT-116	colon:	n/a	chr19:45646997-45647005
40	CTCF	chr19:45646980-45647130	GM12874	blood:	n/a	chr19:45646997-45647005
41	CTCF	chr19:45647000-45647150	HVMF	connective:	n/a	n/a
42	CTCF	chr19:45646960-45647110	A549	lung:	n/a	chr19:45646997-45647005
43	CTCF	chr19:45646917-45647263	K562	blood:	n/a	chr19:45646997-45647005
44	CTCF	chr19:45646960-45647110	HCM	heart:	n/a	chr19:45646997-45647005
45	CTCF	chr19:45646980-45647130	GM06990	blood:	n/a	chr19:45646997-45647005
46	CTCF	chr19:45646960-45647110	Caco-2	colon:	n/a	chr19:45646997-45647005
47	CTCF	chr19:45646960-45647110	GM12878	blood:	n/a	chr19:45646997-45647005
48	CTCF	chr19:45647023-45647246	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:45647012-45647062	Hela-S3	cervix:	n/a
2	chr19:45647012-45647062	HRCEpiC	kidney:	n/a
3	chr19:45647012-45647062	BE2_C	brain:	n/a
4	chr19:45647012-45647062	HRE	kidney:	n/a
5	chr19:45647012-45647062	MCF-7	breast:	n/a
6	chr19:45647012-45647062	ProgFib	skin:	n/a
7	chr19:45647012-45647062	PFSK-1	brain:	n/a
8	chr19:45647012-45647062	AG10803	skin:	n/a
9	chr19:45647012-45647062	T-47D	breast:	n/a
10	chr19:45647012-45647062	ECC-1	luminal epithelium:	n/a
11	chr19:45647012-45647062	HL-60	blood:	n/a
12	chr19:45647012-45647062	IMR90	lung:	fetal
13	chr19:45647012-45647062	HepG2	liver:	n/a
14	chr19:45647012-45647062	HCF	heart:	n/a
15	chr19:45647012-45647062	GM12891	blood:	n/a
16	chr19:45647012-45647062	AG04449	skin:	fetal
17	chr19:45647012-45647062	SAEC	small airway:	n/a
18	chr19:45647012-45647062	HCPEpiC	choroid plexus:	n/a
19	chr19:45647012-45647062	NH-A	brain:	n/a
20	chr19:45647012-45647062	GM12878	blood:	n/a
21	chr19:45647012-45647062	NT2-D1	testis:	n/a
22	chr19:45647012-45647062	CMK	blood:	n/a
23	chr19:45647012-45647062	NB4	blood:	n/a
24	chr19:45647012-45647062	A549	lung:	n/a
25	chr19:45647012-45647062	NHDF-neo	bronchial:	n/a
26	chr19:45647012-45647062	SK-N-MC	brain:	n/a
27	chr19:45647012-45647062	Hepatocyte	liver:	n/a
28	chr19:45647012-45647062	Caco-2	colon:	n/a
29	chr19:45647012-45647062	LNCaP	prostate:	n/a
30	chr19:45647012-45647062	HUVEC	blood vessel:	n/a
31	chr19:45647012-45647062	HRPEpiC	eye:	n/a
32	chr19:45647012-45647062	HCM	heart:	n/a
33	chr19:45647012-45647062	GM19239	blood:	n/a
34	chr19:45647012-45647062	ovcar-3	ovarian:	n/a
35	chr19:45647012-45647062	K562	blood:	n/a
36	chr19:45647012-45647062	HCT-116	colon:	n/a
37	chr19:45647012-45647062	SK-N-SH_RA	brain:	n/a
38	chr19:45647012-45647062	GM06990	blood:	n/a
39	chr19:45647012-45647062	HIPEpiC	eye:	n/a
40	chr19:45647012-45647062	BJ	skin:	n/a
41	chr19:45647012-45647062	NHBE	bronchial:	n/a
42	chr19:45647012-45647062	GM12892	blood:	n/a
43	chr19:45647012-45647062	HPAEpiC	pulmonary alveolar:	n/a
44	chr19:45647012-45647062	HAEpiC	amniotic membrane:	n/a
45	chr19:45647012-45647062	SKMC	muscle:	n/a
46	chr19:45647012-45647062	HNPCEpiC	eye:	n/a
47	chr19:45647012-45647062	AG04450	lung:	fetal
48	chr19:45647012-45647062	HMEC	breast:	n/a
49	chr19:45647012-45647062	U87	brain:	n/a
50	chr19:45647012-45647062	HEK293	kidney:	embryo

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45595033..45597870-chr19:45646652..45650476,4	MCF-7	breast:
2	chr19:45572577..45574874-chr19:45646801..45648501,2	MCF-7	breast:
3	chr19:45638752..45643704-chr19:45645351..45650444,8	K562	blood:
4	chr19:45646614..45649721-chr19:45656300..45659382,4	K562	blood:

No data

Variant related genes	Relation type
PPP1R37	TF binding region
PPP1R37	CpG island
ENSG00000104859	Chromatin interaction
ENSG00000104866	Chromatin interaction
ENSG00000179846	Chromatin interaction
ENSG00000267044	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10402479	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10403214	1.00[ASN][1000 genomes]
rs10405306	1.00[ASN][1000 genomes]
rs10405719	1.00[ASN][1000 genomes]
rs10405721	1.00[ASN][1000 genomes]
rs10406911	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10408366	1.00[ASN][1000 genomes]
rs10408462	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10409138	1.00[ASN][1000 genomes]
rs10409232	1.00[ASN][1000 genomes]
rs10409727	1.00[ASN][1000 genomes]
rs10409903	1.00[ASN][1000 genomes]
rs10410424	1.00[ASN][1000 genomes]
rs10415674	1.00[ASN][1000 genomes]
rs10417101	1.00[ASN][1000 genomes]
rs10417347	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10417618	1.00[ASN][1000 genomes]
rs10417804	1.00[ASN][1000 genomes]
rs10419874	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10419883	1.00[AMR][1000 genomes]
rs10420717	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10420824	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10421085	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10421425	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10421932	1.00[ASN][1000 genomes]
rs10422671	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10423079	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10423555	1.00[ASN][1000 genomes]
rs10424651	1.00[ASN][1000 genomes]
rs10425380	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1076384	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12459386	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12459402	1.00[ASN][1000 genomes]
rs12459945	1.00[ASN][1000 genomes]
rs12461749	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13344055	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13344075	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13345307	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1541926	1.00[ASN][1000 genomes]
rs16979688	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17562787	1.00[ASN][1000 genomes]
rs17642665	1.00[ASN][1000 genomes]
rs1982077	1.00[ASN][1000 genomes]
rs2003183	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2003345	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2004356	1.00[ASN][1000 genomes]
rs2011438	1.00[ASN][1000 genomes]
rs2041261	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2041263	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2043320	1.00[ASN][1000 genomes]
rs2060252	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2060253	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28404390	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28657408	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28706378	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28719739	1.00[ASN][1000 genomes]
rs35904300	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4427916	1.00[ASN][1000 genomes]
rs4608431	1.00[ASN][1000 genomes]
rs4803798	1.00[ASN][1000 genomes]
rs56764148	1.00[AMR][1000 genomes]
rs58260098	1.00[ASN][1000 genomes]
rs58600209	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58854055	1.00[ASN][1000 genomes]
rs58880456	1.00[ASN][1000 genomes]
rs59240271	1.00[ASN][1000 genomes]
rs60372869	1.00[ASN][1000 genomes]
rs60455813	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61531804	1.00[ASN][1000 genomes]
rs7251651	1.00[ASN][1000 genomes]
rs7254138	1.00[ASN][1000 genomes]
rs7257599	1.00[ASN][1000 genomes]
rs7259404	1.00[ASN][1000 genomes]
rs733289	1.00[ASN][1000 genomes]
rs73562250	1.00[ASN][1000 genomes]
rs73562267	1.00[ASN][1000 genomes]
rs73939607	1.00[ASN][1000 genomes]
rs747646	1.00[ASN][1000 genomes]
rs747647	1.00[ASN][1000 genomes]
rs754364	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs754365	1.00[ASN][1000 genomes]
rs754367	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8101046	1.00[ASN][1000 genomes]
rs892133	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9653111	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912142	chr19:45570051-45708758	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription 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 miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv833842	chr19:45593888-45684308	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv833843	chr19:45593888-45793682	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv912143	chr19:45624303-45767214	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv3403042	chr19:45626786-45874859	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv912144	chr19:45636319-45687446	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv522341	chr19:45640124-45664218	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45617000-45651600	Weak transcription	Fetal Kidney	kidney
2	chr19:45625000-45654200	Weak transcription	NHDF-Ad	bronchial
3	chr19:45626200-45653400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr19:45627600-45655600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:45630800-45653200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr19:45633600-45655200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr19:45634400-45653000	Weak transcription	NH-A	brain
8	chr19:45638800-45652400	Weak transcription	Small Intestine	intestine
9	chr19:45639800-45656800	Weak transcription	K562	blood
10	chr19:45640000-45653800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr19:45640000-45654400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr19:45640200-45648200	Weak transcription	Psoas Muscle	Psoas
13	chr19:45640400-45655000	Weak transcription	Fetal Heart	heart
14	chr19:45641400-45654600	Weak transcription	HSMM	muscle
15	chr19:45641600-45654000	Weak transcription	HSMMtube	muscle
16	chr19:45641800-45651200	Weak transcription	Fetal Brain Male	brain
17	chr19:45641800-45653800	Weak transcription	Stomach Mucosa	stomach
18	chr19:45642000-45652600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr19:45642000-45653600	Strong transcription	Fetal Intestine Small	intestine
20	chr19:45642000-45655200	Weak transcription	GM12878-XiMat	blood
21	chr19:45642000-45655400	Weak transcription	Right Atrium	heart
22	chr19:45642400-45652600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr19:45642800-45647200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr19:45642800-45650200	Strong transcription	Spleen	Spleen
25	chr19:45642800-45650800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:45642800-45650800	Strong transcription	Placenta	Placenta
27	chr19:45642800-45650800	Strong transcription	Dnd41	blood
28	chr19:45642800-45651400	Strong transcription	Colonic Mucosa	Colon
29	chr19:45642800-45651600	Strong transcription	Fetal Brain Female	brain
30	chr19:45642800-45652000	Strong transcription	Fetal Muscle Leg	muscle
31	chr19:45642800-45652200	Strong transcription	Fetal Intestine Large	intestine
32	chr19:45642800-45652400	Strong transcription	Thymus	Thymus
33	chr19:45642800-45653000	Strong transcription	Fetal Muscle Trunk	muscle
34	chr19:45642800-45653400	Strong transcription	Fetal Stomach	stomach
35	chr19:45643000-45648600	Strong transcription	Lung	lung
36	chr19:45643000-45650400	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr19:45643000-45653200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr19:45643000-45654200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:45643000-45654200	Strong transcription	Gastric	stomach
40	chr19:45643200-45649200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:45643400-45648200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr19:45643400-45650800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr19:45643400-45653600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr19:45643600-45651000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr19:45643600-45651600	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr19:45643600-45653000	Strong transcription	Pancreas	Pancrea
47	chr19:45643600-45654000	Weak transcription	HMEC	breast
48	chr19:45643800-45647200	Strong transcription	Fetal Lung	lung
49	chr19:45643800-45650000	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr19:45643800-45650800	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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