Variant report

Variant	rs73588864
Chromosome Location	chr19:35626624-35626625
allele	G/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	SIN3AK20	chr19:35626240-35626634	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr19:35626324-35626625	H1-hESC	embryonic stem cell:	n/a	chr19:35626457-35626473 chr19:35626451-35626472 chr19:35626462-35626471 chr19:35626537-35626545 chr19:35626456-35626474 chr19:35626458-35626471
3	RAD21	chr19:35626062-35626866	HCT-116	colon:	n/a	chr19:35626454-35626473 chr19:35626396-35626406 chr19:35626540-35626547 chr19:35626309-35626321
4	CTCF	chr19:35626339-35626628	MCF-7	breast:	n/a	chr19:35626457-35626473 chr19:35626451-35626472 chr19:35626462-35626471 chr19:35626537-35626545 chr19:35626456-35626474 chr19:35626458-35626471
5	SMC3	chr19:35626129-35626913	SK-N-SH	brain:	n/a	chr19:35626458-35626472
6	RAD21	chr19:35626245-35626742	ECC-1	luminal epithelium:	n/a	chr19:35626454-35626473 chr19:35626396-35626406 chr19:35626540-35626547 chr19:35626309-35626321
7	PAX5	chr19:35626280-35626806	GM12878	blood:	n/a	n/a
8	CTCF	chr19:35626285-35626727	MCF-7	breast:	n/a	chr19:35626457-35626473 chr19:35626451-35626472 chr19:35626462-35626471 chr19:35626537-35626545 chr19:35626456-35626474 chr19:35626458-35626471
9	HCFC1	chr19:35626310-35626736	K562	blood:	n/a	n/a
10	YY1	chr19:35626186-35626759	H1-hESC	embryonic stem cell:	n/a	chr19:35626234-35626245 chr19:35626302-35626322 chr19:35626356-35626367 chr19:35626303-35626322 chr19:35626490-35626501
11	CTCF	chr19:35626318-35626626	MCF-7	breast:	n/a	chr19:35626457-35626473 chr19:35626451-35626472 chr19:35626462-35626471 chr19:35626537-35626545 chr19:35626456-35626474 chr19:35626458-35626471
12	CHD2	chr19:35626195-35626673	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr19:35626189-35626752	MCF-7	breast:	n/a	chr19:35626457-35626473 chr19:35626451-35626472 chr19:35626462-35626471 chr19:35626537-35626545 chr19:35626456-35626474 chr19:35626458-35626471
14	NR2F2	chr19:35626417-35626922	K562	blood:	n/a	n/a
15	CTCF	chr19:35626245-35626717	K562	blood:	n/a	chr19:35626457-35626473 chr19:35626451-35626472 chr19:35626462-35626471 chr19:35626537-35626545 chr19:35626456-35626474 chr19:35626458-35626471
16	ATF3	chr19:35626393-35626760	K562	blood:	n/a	n/a
17	SMC3	chr19:35626234-35626769	Hela-S3	cervix:	n/a	chr19:35626458-35626472
18	EGR1	chr19:35626419-35626637	K562	blood:	n/a	n/a
19	FOXM1	chr19:35626355-35626658	GM12878	blood:	n/a	n/a
20	REST	chr19:35626322-35626947	A549	lung:	n/a	chr19:35626563-35626572 chr19:35626425-35626438
21	CTCF	chr19:35626208-35626662	H1-hESC	embryonic stem cell:	n/a	chr19:35626457-35626473 chr19:35626451-35626472 chr19:35626462-35626471 chr19:35626537-35626545 chr19:35626456-35626474 chr19:35626458-35626471
22	REST	chr19:35626420-35626659	K562	blood:	n/a	chr19:35626563-35626572 chr19:35626425-35626438
23	RAD21	chr19:35626202-35626698	MCF-7	breast:	n/a	chr19:35626454-35626473 chr19:35626396-35626406 chr19:35626540-35626547 chr19:35626309-35626321
24	REST	chr19:35626364-35626757	H1-hESC	embryonic stem cell:	n/a	chr19:35626563-35626572 chr19:35626425-35626438
25	RAD21	chr19:35626254-35626681	SK-N-SH_RA	brain:	n/a	chr19:35626454-35626473 chr19:35626396-35626406 chr19:35626540-35626547 chr19:35626309-35626321
26	BACH1	chr19:35626330-35626664	H1-hESC	embryonic stem cell:	n/a	n/a
27	MYBL2	chr19:35626318-35626812	HepG2	liver:	n/a	n/a
28	CTCF	chr19:35626288-35626667	GM12891	blood:	n/a	chr19:35626457-35626473 chr19:35626451-35626472 chr19:35626462-35626471 chr19:35626537-35626545 chr19:35626456-35626474 chr19:35626458-35626471
29	CTCF	chr19:35626245-35626807	A549	lung:	n/a	chr19:35626457-35626473 chr19:35626451-35626472 chr19:35626462-35626471 chr19:35626537-35626545 chr19:35626456-35626474 chr19:35626458-35626471
30	SP4	chr19:35626222-35626672	H1-hESC	embryonic stem cell:	n/a	n/a
31	RXRA	chr19:35626316-35626883	HepG2	liver:	n/a	chr19:35626867-35626880 chr19:35626454-35626474
32	REST	chr19:35626371-35626701	PFSK-1	brain:	n/a	chr19:35626563-35626572 chr19:35626425-35626438
33	CTCF	chr19:35626334-35626624	A549	lung:	n/a	chr19:35626457-35626473 chr19:35626451-35626472 chr19:35626462-35626471 chr19:35626537-35626545 chr19:35626456-35626474 chr19:35626458-35626471
34	SMC3	chr19:35626312-35626707	HepG2	liver:	n/a	chr19:35626458-35626472
35	RAD21	chr19:35626258-35626721	Hela-S3	cervix:	n/a	chr19:35626454-35626473 chr19:35626396-35626406 chr19:35626540-35626547 chr19:35626309-35626321
36	RCOR1	chr19:35626440-35626682	GM12878	blood:	n/a	n/a
37	CTCF	chr19:35626349-35626652	Kidney_OC	kidney:	n/a	chr19:35626457-35626473 chr19:35626451-35626472 chr19:35626462-35626471 chr19:35626537-35626545 chr19:35626456-35626474 chr19:35626458-35626471
38	RAD21	chr19:35626264-35626625	K562	blood:	n/a	chr19:35626454-35626473 chr19:35626396-35626406 chr19:35626540-35626547 chr19:35626309-35626321
39	RCOR1	chr19:35626365-35626801	K562	blood:	n/a	n/a
40	BHLHE40	chr19:35626359-35626709	K562	blood:	n/a	n/a
41	RAD21	chr19:35626242-35626709	IMR90	lung:	n/a	chr19:35626454-35626473 chr19:35626396-35626406 chr19:35626540-35626547 chr19:35626309-35626321
42	CTCF	chr19:35626289-35626678	GM19238	blood:	n/a	chr19:35626457-35626473 chr19:35626451-35626472 chr19:35626462-35626471 chr19:35626537-35626545 chr19:35626456-35626474 chr19:35626458-35626471
43	CTCF	chr19:35626337-35626633	Medullo	brain:	n/a	chr19:35626457-35626473 chr19:35626451-35626472 chr19:35626462-35626471 chr19:35626537-35626545 chr19:35626456-35626474 chr19:35626458-35626471
44	ARID3A	chr19:35626348-35626754	HepG2	liver:	n/a	n/a
45	CTCF	chr19:35626345-35626636	Pancreas_OC	pancreas:	n/a	chr19:35626457-35626473 chr19:35626451-35626472 chr19:35626462-35626471 chr19:35626537-35626545 chr19:35626456-35626474 chr19:35626458-35626471
46	ZBTB7A	chr19:35626101-35626673	ECC-1	luminal epithelium:	n/a	n/a
47	RAD21	chr19:35626289-35626654	HepG2	liver:	n/a	chr19:35626454-35626473 chr19:35626396-35626406 chr19:35626540-35626547 chr19:35626309-35626321
48	CTCF	chr19:35626113-35626739	HCT-116	colon:	n/a	chr19:35626457-35626473 chr19:35626451-35626472 chr19:35626462-35626471 chr19:35626537-35626545 chr19:35626456-35626474 chr19:35626458-35626471
49	RAD21	chr19:35626209-35626728	H1-hESC	embryonic stem cell:	n/a	chr19:35626454-35626473 chr19:35626396-35626406 chr19:35626540-35626547 chr19:35626309-35626321
50	CTCF	chr19:35626324-35626677	GM12878	blood:	n/a	chr19:35626457-35626473 chr19:35626451-35626472 chr19:35626462-35626471 chr19:35626537-35626545 chr19:35626456-35626474 chr19:35626458-35626471

No.	Distal block	Cell Line	Cell type
1	chr19:35625357..35628180-chr19:35737479..35741018,4	MCF-7	breast:
2	chr19:35624985..35627104-chr19:35738782..35741299,2	K562	blood:
3	chr19:35571384..35572371-chr19:35626225..35626813,2	MCF-7	breast:
4	chr19:35625494..35628326-chr19:35738306..35742693,4	MCF-7	breast:
5	chr19:35489559..35491681-chr19:35625494..35628007,2	K562	blood:

Variant related genes	Relation type
FXYD1	TF binding region
LGI4	TF binding region
ENSG00000221857	TF binding region
ENSG00000269303	Chromatin interaction
ENSG00000089351	Chromatin interaction
ENSG00000105699	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1052400	1.00[AMR][1000 genomes]
rs41407744	1.00[AMR][1000 genomes]
rs58384335	0.82[AFR][1000 genomes]
rs73588856	1.00[AMR][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	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911614	chr19:35570307-35648365	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
3	nsv911615	chr19:35577870-35648365	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	nsv911616	chr19:35577870-35669071	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
5	nsv911617	chr19:35587791-35642297	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35616200-35627400	Weak transcription	Lung	lung
2	chr19:35616800-35628200	Weak transcription	Gastric	stomach
3	chr19:35619600-35626800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:35624200-35626800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr19:35624600-35626800	Enhancers	Fetal Brain Male	brain
6	chr19:35624800-35627000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:35624800-35627200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr19:35624800-35629000	Enhancers	Fetal Heart	heart
9	chr19:35625200-35626800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:35625200-35630000	Enhancers	NHDF-Ad	bronchial
11	chr19:35625400-35627600	Enhancers	HepG2	liver
12	chr19:35625600-35626800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:35625600-35626800	Enhancers	K562	blood
14	chr19:35625600-35627000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr19:35625600-35629000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:35625800-35626800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr19:35626000-35626800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr19:35626000-35626800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:35626000-35626800	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr19:35626000-35626800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr19:35626000-35627000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr19:35626000-35627200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:35626200-35626800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr19:35626200-35626800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr19:35626200-35626800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:35626200-35626800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr19:35626200-35626800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr19:35626200-35626800	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr19:35626200-35626800	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr19:35626200-35626800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:35626200-35626800	Enhancers	Colon Smooth Muscle	Colon
32	chr19:35626200-35626800	Enhancers	Left Ventricle	heart
33	chr19:35626200-35626800	Enhancers	Stomach Mucosa	stomach
34	chr19:35626200-35626800	Enhancers	NHLF	lung
35	chr19:35626200-35626800	Bivalent Enhancer	Osteobl	bone
36	chr19:35626200-35627000	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr19:35626200-35627000	Enhancers	Hela-S3	cervix
38	chr19:35626200-35627400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr19:35626200-35627400	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr19:35626200-35628200	Enhancers	Liver	Liver
41	chr19:35626200-35628400	Enhancers	A549	lung
42	chr19:35626200-35629000	Enhancers	Primary B cells from peripheral blood	blood
43	chr19:35626200-35629400	Enhancers	Fetal Intestine Small	intestine
44	chr19:35626200-35629800	Enhancers	Fetal Intestine Large	intestine
45	chr19:35626200-35629800	Enhancers	Placenta	Placenta
46	chr19:35626200-35633200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr19:35626400-35626800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr19:35626400-35626800	Enhancers	Primary hematopoietic stem cells	blood
49	chr19:35626400-35626800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr19:35626400-35626800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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