Variant report

Variant	rs73606288
Chromosome Location	chr19:55973794-55973795
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	TBL1XR1	chr19:55972281-55973884	K562	blood:	n/a	n/a
2	POLR2A	chr19:55972451-55973994	GM12891	blood:	n/a	n/a
3	CHD1	chr19:55973377-55973985	GM12878	blood:	n/a	n/a
4	E2F6	chr19:55972530-55973859	A549	lung:	n/a	chr19:55973272-55973279 chr19:55973044-55973055 chr19:55973283-55973292 chr19:55973165-55973174 chr19:55972747-55972757
5	RCOR1	chr19:55972234-55974065	IMR90	lung:	n/a	n/a
6	HEY1	chr19:55973640-55973960	K562	blood:	n/a	n/a
7	JUN	chr19:55972172-55973998	K562	blood:	n/a	chr19:55973221-55973230 chr19:55973253-55973262
8	POLR2A	chr19:55972373-55973846	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr19:55972249-55973897	HepG2	liver:	n/a	n/a
10	SP1	chr19:55972283-55973843	A549	lung:	n/a	chr19:55973284-55973293 chr19:55972529-55972538 chr19:55973164-55973174 chr19:55973279-55973293 chr19:55973283-55973293 chr19:55972529-55972538 chr19:55972527-55972539 chr19:55973164-55973173 chr19:55972528-55972538 chr19:55972528-55972537 chr19:55973163-55973175 chr19:55972498-55972510 chr19:55973164-55973174 chr19:55972342-55972351 chr19:55972498-55972510 chr19:55972499-55972509 chr19:55972527-55972539 chr19:55973222-55973234 chr19:55973163-55973175 chr19:55973282-55973294 chr19:55973164-55973178 chr19:55973284-55973293 chr19:55973164-55973173 chr19:55973344-55973356 chr19:55973344-55973356 chr19:55972499-55972509 chr19:55973283-55973292 chr19:55973282-55973294 chr19:55972528-55972538 chr19:55973222-55973234 chr19:55973165-55973174 chr19:55973283-55973293
11	SMC3	chr19:55972535-55973867	Hela-S3	cervix:	n/a	chr19:55973167-55973177 chr19:55973218-55973228
12	POLR2A	chr19:55972251-55973990	PFSK-1	brain:	n/a	n/a
13	E2F6	chr19:55973707-55973980	K562	blood:	n/a	n/a
14	STAT3	chr19:55973061-55973888	MCF10A-Er-Src	breast:	n/a	chr19:55973442-55973454 chr19:55973579-55973587 chr19:55973543-55973552 chr19:55973544-55973553 chr19:55973161-55973173 chr19:55973542-55973553
15	ESRRA	chr19:55971821-55974150	GM12878	blood:	n/a	chr19:55972775-55972791 chr19:55972480-55972496 chr19:55972779-55972791 chr19:55972924-55972943 chr19:55972779-55972789
16	ELF1	chr19:55973391-55973968	K562	blood:	n/a	n/a
17	POLR2A	chr19:55972653-55973866	Hela-S3	cervix:	n/a	n/a
18	MAX	chr19:55972223-55974056	A549	lung:	n/a	chr19:55973015-55973028 chr19:55973281-55973291 chr19:55973170-55973180 chr19:55973016-55973027 chr19:55972923-55972933 chr19:55973017-55973026
19	POLR2A	chr19:55972384-55973923	GM12878	blood:	n/a	n/a
20	IRF1	chr19:55972293-55973844	K562	blood:	n/a	chr19:55972527-55972541 chr19:55972293-55972304 chr19:55973222-55973236 chr19:55973282-55973296 chr19:55973161-55973175 chr19:55972498-55972512
21	CBX3	chr19:55972068-55974046	K562	blood:	n/a	n/a
22	ZMIZ1	chr19:55972295-55973991	K562	blood:	n/a	n/a
23	WRNIP1	chr19:55973539-55973899	GM12878	blood:	n/a	n/a
24	RELA	chr19:55972448-55973914	GM10847	blood:	n/a	n/a
25	POLR2A	chr19:55972451-55973904	GM18526	blood:	n/a	n/a
26	TAF1	chr19:55973224-55973875	PFSK-1	brain:	n/a	n/a
27	ELF1	chr19:55972269-55973976	MCF-7	breast:	n/a	chr19:55973210-55973222
28	MYC	chr19:55971512-55974036	K562	blood:	n/a	chr19:55973015-55973028 chr19:55973281-55973291 chr19:55973170-55973180 chr19:55973016-55973027 chr19:55972923-55972933 chr19:55973017-55973026
29	SIN3AK20	chr19:55973282-55974014	A549	lung:	n/a	n/a
30	CREB1	chr19:55970951-55973852	HepG2	liver:	n/a	n/a
31	POLR2A	chr19:55972402-55973958	HUVEC	blood vessel:	n/a	n/a
32	RCOR1	chr19:55972806-55973896	Hela-S3	cervix:	n/a	n/a
33	SMARCC2	chr19:55972651-55973874	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr19:55972404-55973987	K562	blood:	n/a	n/a
35	POLR2A	chr19:55972382-55973982	K562	blood:	n/a	n/a
36	POLR2A	chr19:55971278-55973973	PANC-1	pancreas:	n/a	n/a
37	MAX	chr19:55973712-55973933	HepG2	liver:	n/a	n/a
38	IRF1	chr19:55972458-55973999	K562	blood:	n/a	chr19:55972527-55972541 chr19:55973222-55973236 chr19:55973282-55973296 chr19:55973161-55973175 chr19:55972498-55972512
39	MAX	chr19:55971879-55974148	HepG2	liver:	n/a	chr19:55973015-55973028 chr19:55973281-55973291 chr19:55973170-55973180 chr19:55973016-55973027 chr19:55972923-55972933 chr19:55973017-55973026
40	ZC3H11A	chr19:55973446-55973878	K562	blood:	n/a	n/a
41	CTCF	chr19:55973700-55973850	HCPEpiC	choroid plexus:	n/a	n/a
42	POLR2A	chr19:55973643-55973996	HCT-116	colon:	n/a	n/a
43	SIN3AK20	chr19:55972297-55973959	MCF-7	breast:	n/a	n/a
44	EP300	chr19:55973602-55973869	K562	blood:	n/a	chr19:55973701-55973715
45	POLR2A	chr19:55971664-55974088	K562	blood:	n/a	n/a
46	NR2F2	chr19:55972013-55973919	K562	blood:	n/a	n/a
47	RCOR1	chr19:55971943-55973976	K562	blood:	n/a	n/a
48	CUX1	chr19:55973477-55973940	K562	blood:	n/a	n/a
49	POLR2A	chr19:55972497-55973850	PBDE	blood:	n/a	n/a
50	POLR2A	chr19:55973178-55973877	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:55973778-55973828	HCT-116	colon:	n/a
2	chr19:55973778-55973828	RPTEC	kidney:	n/a
3	chr19:55973778-55973828	H1-hESC	embryonic stem cell:	embryo
4	chr19:55973778-55973828	A549	lung:	n/a
5	chr19:55973778-55973828	SK-N-SH_RA	brain:	n/a
6	chr19:55973778-55973828	LNCaP	prostate:	n/a
7	chr19:55973778-55973828	SAEC	small airway:	n/a
8	chr19:55973778-55973828	BJ	skin:	n/a
9	chr19:55973778-55973828	NHDF-neo	bronchial:	n/a
10	chr19:55973778-55973828	HPAEpiC	pulmonary alveolar:	n/a
11	chr19:55973778-55973828	AG04449	skin:	fetal
12	chr19:55973778-55973828	NB4	blood:	n/a
13	chr19:55973778-55973828	ovcar-3	ovarian:	n/a
14	chr19:55973778-55973828	BE2_C	brain:	n/a
15	chr19:55973778-55973828	Jurkat	blood:	n/a
16	chr19:55973778-55973828	NT2-D1	testis:	n/a
17	chr19:55973778-55973828	PANC-1	pancreas:	n/a
18	chr19:55973778-55973828	HEK293	kidney:	embryo
19	chr19:55973778-55973828	HRE	kidney:	n/a
20	chr19:55973778-55973828	MCF-7	breast:	n/a
21	chr19:55973778-55973828	AG09319	gingival:	n/a
22	chr19:55973778-55973828	PrEC	prostate:	n/a
23	chr19:55973778-55973828	K562	blood:	n/a
24	chr19:55973778-55973828	ProgFib	skin:	n/a
25	chr19:55973778-55973828	HCM	heart:	n/a
26	chr19:55973778-55973828	GM19239	blood:	n/a
27	chr19:55973778-55973828	Hela-S3	cervix:	n/a
28	chr19:55973778-55973828	HEEpiC	esophagus:	n/a
29	chr19:55973778-55973828	AG10803	skin:	n/a
30	chr19:55973778-55973828	ECC-1	luminal epithelium:	n/a
31	chr19:55973778-55973828	IMR90	lung:	fetal
32	chr19:55973778-55973828	SK-N-MC	brain:	n/a
33	chr19:55973778-55973828	HMEC	breast:	n/a
34	chr19:55973778-55973828	GM06990	blood:	n/a
35	chr19:55973778-55973828	Hepatocyte	liver:	n/a
36	chr19:55973778-55973828	CMK	blood:	n/a
37	chr19:55973778-55973828	HAEpiC	amniotic membrane:	n/a
38	chr19:55973778-55973828	HCPEpiC	choroid plexus:	n/a
39	chr19:55973778-55973828	HRCEpiC	kidney:	n/a
40	chr19:55973778-55973828	HRPEpiC	eye:	n/a
41	chr19:55973778-55973828	MCF10A-Er-Src	breast:	n/a
42	chr19:55973778-55973828	NHBE	bronchial:	n/a
43	chr19:55973778-55973828	AoSMC	blood vessel:	n/a
44	chr19:55973778-55973828	GM12878	blood:	n/a
45	chr19:55973778-55973828	AG04450	lung:	fetal
46	chr19:55973778-55973828	AG09309	skin:	n/a
47	chr19:55973778-55973828	HNPCEpiC	eye:	n/a
48	chr19:55973778-55973828	NH-A	brain:	n/a
49	chr19:55973778-55973828	HCF	heart:	n/a
50	chr19:55973778-55973828	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:55768917..55770461-chr19:55972272..55974611,2	K562	blood:
2	chr19:55849599..55852921-chr19:55970880..55974521,5	K562	blood:
3	chr19:55727193..55729698-chr19:55972676..55975009,2	K562	blood:
4	chr19:55973516..55976419-chr19:55995041..55997226,2	MCF-7	breast:
5	chr19:55972027..55974548-chr19:56111000..56113265,2	MCF-7	breast:
6	chr19:55972391..55974736-chr19:56164397..56167331,2	MCF-7	breast:
7	chr19:55916982..55920956-chr19:55971330..55975217,7	K562	blood:
8	chr19:55949680..55954432-chr19:55969839..55974899,6	K562	blood:
9	chr19:55970695..55974702-chr19:56000504..56005506,6	K562	blood:
10	chr19:55592815..55595321-chr19:55971262..55974012,2	K562	blood:
11	chr19:55913931..55915922-chr19:55972282..55974856,2	MCF-7	breast:
12	chr19:55911367..55913938-chr19:55973377..55976304,2	K562	blood:
13	chr19:55972271..55975027-chr19:55998375..56000378,2	MCF-7	breast:
14	chr19:55971554..55973969-chr19:56116219..56118997,2	MCF-7	breast:
15	chr19:55894386..55898784-chr19:55971378..55974677,5	MCF-7	breast:
16	chr19:55971436..55976249-chr19:55985108..55990468,9	MCF-7	breast:
17	chr19:55973333..55974918-chr19:55997673..56000116,2	K562	blood:
18	chr19:55970859..55974182-chr19:56164245..56166880,4	K562	blood:
19	chr19:55971482..55974428-chr19:56110628..56113037,3	K562	blood:
20	chr19:55973159..55975306-chr19:56090568..56094014,3	K562	blood:
21	chr19:55950796..55953996-chr19:55973168..55975458,3	K562	blood:
22	chr19:55971132..55976622-chr19:55984125..55989318,11	MCF-7	breast:
23	chr19:55717271..55720119-chr19:55971581..55974042,2	K562	blood:
24	chr19:55917643..55920320-chr19:55972969..55975878,3	MCF-7	breast:
25	chr19:55917592..55920632-chr19:55969275..55975218,9	K562	blood:
26	chr19:55895254..55897852-chr19:55973441..55975937,2	K562	blood:
27	chr19:55579871..55582758-chr19:55972275..55974580,3	K562	blood:
28	chr19:55916326..55922315-chr19:55969733..55974780,9	MCF-7	breast:
29	chr19:55971093..55974344-chr2:220171709..220173230,3	K562	blood:
30	chr19:55894730..55901388-chr19:55970612..55975937,9	K562	blood:
31	chr19:55970737..55974830-chr19:55992708..55996652,6	K562	blood:

Variant related genes	Relation type
ISOC2	TF binding region
ISOC2	CpG island
ENSG00000080031	Chromatin interaction
ENSG00000179954	Chromatin interaction
ENSG00000131037	Chromatin interaction
ENSG00000267531	Chromatin interaction
ENSG00000218891	Chromatin interaction
ENSG00000160439	Chromatin interaction
ENSG00000171443	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000197483	Chromatin interaction
ENSG00000267093	Chromatin interaction
ENSG00000179943	Chromatin interaction
ENSG00000269859	Chromatin interaction
ENSG00000063244	Chromatin interaction
ENSG00000187902	Chromatin interaction
ENSG00000133247	Chromatin interaction
ENSG00000090971	Chromatin interaction
ENSG00000261221	Chromatin interaction
ENSG00000267649	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000054356	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000105063	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73606268	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
2	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	nsv912463	chr19:55845386-56004901	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
4	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
5	nsv912478	chr19:55936376-56045522	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription 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	49 gene(s)	inside rSNPs	diseases
6	nsv912480	chr19:55972950-56009881	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv912481	chr19:55972950-56019597	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv912482	chr19:55972950-56062949	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55971600-55973800	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr19:55971800-55973800	Flanking Active TSS	Fetal Muscle Trunk	muscle
3	chr19:55971800-55973800	Active TSS	Ovary	ovary
4	chr19:55971800-55974000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr19:55971800-55974000	Active TSS	Brain Angular Gyrus	brain
6	chr19:55972000-55973800	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr19:55972000-55973800	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr19:55972000-55973800	Active TSS	Colon Smooth Muscle	Colon
9	chr19:55972000-55973800	Active TSS	Psoas Muscle	Psoas
10	chr19:55972000-55973800	Active TSS	Rectal Smooth Muscle	rectum
11	chr19:55972000-55974000	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr19:55972000-55974000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr19:55972000-55974000	Active TSS	HSMM	muscle
14	chr19:55972000-55975200	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr19:55972200-55973800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:55972200-55973800	Active TSS	Aorta	Aorta
17	chr19:55972200-55973800	Active TSS	Esophagus	oesophagus
18	chr19:55972200-55973800	Active TSS	Left Ventricle	heart
19	chr19:55972400-55973800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr19:55972400-55973800	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr19:55972400-55973800	Active TSS	Small Intestine	intestine
22	chr19:55972600-55973800	Active TSS	Right Ventricle	heart
23	chr19:55972600-55974000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:55972600-55974000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr19:55972600-55974000	Active TSS	Fetal Brain Female	brain
26	chr19:55972600-55974600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr19:55972800-55973800	Active TSS	Primary T cells from cord blood	blood
28	chr19:55972800-55973800	Active TSS	Placenta Amnion	Placenta Amnion
29	chr19:55973000-55973800	Active TSS	Colonic Mucosa	Colon
30	chr19:55973000-55973800	Active TSS	Stomach Smooth Muscle	stomach
31	chr19:55973000-55975000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr19:55973200-55973800	Active TSS	Right Atrium	heart
33	chr19:55973200-55974000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr19:55973400-55973800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
35	chr19:55973400-55973800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:55973400-55973800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr19:55973400-55973800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr19:55973400-55973800	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr19:55973400-55973800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr19:55973400-55973800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr19:55973400-55973800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr19:55973400-55973800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr19:55973400-55973800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr19:55973400-55973800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr19:55973400-55973800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr19:55973400-55973800	Flanking Active TSS	Fetal Brain Male	brain
47	chr19:55973400-55973800	Flanking Active TSS	Fetal Lung	lung
48	chr19:55973400-55973800	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr19:55973400-55973800	Flanking Active TSS	Placenta	Placenta
50	chr19:55973400-55973800	Flanking Active TSS	Fetal Thymus	thymus

The 2.0 version of rSNPBase

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