Variant report

Variant	rs2293756
Chromosome Location	chr19:36435564-36435565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr19:36435485-36435607	MCF-7	breast:	n/a	n/a
2	MYC	chr19:36435532-36435638	K562	blood:	n/a	n/a
3	E2F6	chr19:36435426-36435838	K562	blood:	n/a	n/a
4	POLR2A	chr19:36435514-36435621	MCF-7	breast:	n/a	n/a
5	YY1	chr19:36435466-36435717	K562	blood:	n/a	n/a
6	MAX	chr19:36435344-36435886	K562	blood:	n/a	n/a
7	MAX	chr19:36435430-36435812	K562	blood:	n/a	n/a
8	YY1	chr19:36435437-36435755	K562	blood:	n/a	n/a
9	MYC	chr19:36435503-36435690	K562	blood:	n/a	n/a
10	HMGN3	chr19:36435510-36435816	K562	blood:	n/a	n/a
11	ZBTB7A	chr19:36435491-36435766	K562	blood:	n/a	n/a
12	E2F6	chr19:36435497-36435665	K562	blood:	n/a	n/a
13	MYC	chr19:36435531-36435718	K562	blood:	n/a	n/a
14	MAX	chr19:36435523-36435740	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:36435543-36435593	BE2_C	brain:	n/a
2	chr19:36435543-36435593	CMK	blood:	n/a
3	chr19:36435543-36435593	Caco-2	colon:	n/a
4	chr19:36435543-36435593	HEK293	kidney:	embryo
5	chr19:36435543-36435593	U87	brain:	n/a
6	chr19:36435543-36435593	HepG2	liver:	n/a
7	chr19:36435543-36435593	NHBE	bronchial:	n/a
8	chr19:36435543-36435593	HCPEpiC	choroid plexus:	n/a
9	chr19:36435543-36435593	AG04450	lung:	fetal
10	chr19:36435543-36435593	NT2-D1	testis:	n/a
11	chr19:36435543-36435593	SAEC	small airway:	n/a
12	chr19:36435543-36435593	GM12892	blood:	n/a
13	chr19:36435543-36435593	GM19239	blood:	n/a
14	chr19:36435543-36435593	Jurkat	blood:	n/a
15	chr19:36435543-36435593	HEEpiC	esophagus:	n/a
16	chr19:36435543-36435593	SK-N-SH	brain:	n/a
17	chr19:36435543-36435593	HIPEpiC	eye:	n/a
18	chr19:36435543-36435593	ProgFib	skin:	n/a
19	chr19:36435543-36435593	SK-N-SH_RA	brain:	n/a
20	chr19:36435543-36435593	HRE	kidney:	n/a
21	chr19:36435543-36435593	A549	lung:	n/a
22	chr19:36435543-36435593	Hepatocyte	liver:	n/a
23	chr19:36435543-36435593	HUVEC	blood vessel:	n/a
24	chr19:36435543-36435593	LNCaP	prostate:	n/a
25	chr19:36435543-36435593	H1-hESC	embryonic stem cell:	embryo
26	chr19:36435543-36435593	HL-60	blood:	n/a
27	chr19:36435543-36435593	PrEC	prostate:	n/a
28	chr19:36435543-36435593	MCF10A-Er-Src	breast:	n/a
29	chr19:36435543-36435593	AG10803	skin:	n/a
30	chr19:36435543-36435593	NB4	blood:	n/a
31	chr19:36435543-36435593	GM12878	blood:	n/a
32	chr19:36435543-36435593	Hela-S3	cervix:	n/a
33	chr19:36435543-36435593	AG09319	gingival:	n/a
34	chr19:36435543-36435593	PANC-1	pancreas:	n/a
35	chr19:36435543-36435593	K562	blood:	n/a
36	chr19:36435543-36435593	HPAEpiC	pulmonary alveolar:	n/a
37	chr19:36435543-36435593	ECC-1	luminal epithelium:	n/a
38	chr19:36435543-36435593	HCM	heart:	n/a
39	chr19:36435543-36435593	HRPEpiC	eye:	n/a
40	chr19:36435543-36435593	BJ	skin:	n/a
41	chr19:36435543-36435593	HAEpiC	amniotic membrane:	n/a
42	chr19:36435543-36435593	GM12891	blood:	n/a
43	chr19:36435543-36435593	ovcar-3	ovarian:	n/a
44	chr19:36435543-36435593	HCF	heart:	n/a
45	chr19:36435543-36435593	SK-N-MC	brain:	n/a
46	chr19:36435543-36435593	AG09309	skin:	n/a
47	chr19:36435543-36435593	HNPCEpiC	eye:	n/a
48	chr19:36435543-36435593	MCF-7	breast:	n/a
49	chr19:36435543-36435593	T-47D	breast:	n/a
50	chr19:36435543-36435593	GM06990	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36434768..36437556-chr19:36487858..36489977,3	MCF-7	breast:
2	chr19:36427493..36430345-chr19:36435418..36438366,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267786	TF binding region
ENSG00000267786	CpG island
ENSG00000126243	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10221461	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10221486	0.86[ASN][1000 genomes]
rs1057265	0.91[ASN][1000 genomes]
rs11878444	0.93[ASN][1000 genomes]
rs11878880	0.86[ASN][1000 genomes]
rs11879537	0.86[ASN][1000 genomes]
rs11880835	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11880859	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11881157	0.91[ASN][1000 genomes]
rs11882386	0.93[ASN][1000 genomes]
rs11883234	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13382036	0.91[ASN][1000 genomes]
rs2242590	0.93[ASN][1000 genomes]
rs55686886	1.00[ASN][1000 genomes]
rs56042927	1.00[ASN][1000 genomes]
rs56132631	0.90[ASN][1000 genomes]
rs56132838	0.87[ASN][1000 genomes]
rs56187901	1.00[ASN][1000 genomes]
rs56230692	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56922307	0.91[ASN][1000 genomes]
rs57094555	0.91[ASN][1000 genomes]
rs57785375	1.00[ASN][1000 genomes]
rs58161969	0.91[ASN][1000 genomes]
rs58456578	0.91[ASN][1000 genomes]
rs58768499	0.97[ASN][1000 genomes]
rs58976020	0.93[ASN][1000 genomes]
rs59150589	0.91[ASN][1000 genomes]
rs59151712	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60073802	0.91[ASN][1000 genomes]
rs60276253	1.00[ASN][1000 genomes]
rs60500471	1.00[ASN][1000 genomes]
rs60892678	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61510077	0.95[ASN][1000 genomes]
rs61660311	0.83[ASN][1000 genomes]
rs7245383	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7246259	0.93[ASN][1000 genomes]
rs7246541	0.91[ASN][1000 genomes]
rs7247000	0.89[ASN][1000 genomes]
rs7247769	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7248253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7248265	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7249502	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7249567	0.84[ASN][1000 genomes]
rs7251380	1.00[ASN][1000 genomes]
rs7251422	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7252053	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7252526	0.86[ASN][1000 genomes]
rs7252572	0.83[ASN][1000 genomes]
rs7252693	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7252839	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7254298	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7254905	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7254994	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7255824	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7256952	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7257789	0.93[ASN][1000 genomes]
rs7257911	0.89[ASN][1000 genomes]
rs7258914	0.89[ASN][1000 genomes]
rs7259892	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73599554	0.86[ASN][1000 genomes]
rs73599565	0.86[ASN][1000 genomes]
rs73599577	0.93[ASN][1000 genomes]
rs73599602	0.93[ASN][1000 genomes]
rs73928364	0.86[ASN][1000 genomes]
rs73928368	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73928369	1.00[ASN][1000 genomes]
rs909135	0.93[ASN][1000 genomes]
rs909136	0.93[ASN][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	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	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh 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	esv3426319	chr19:36434362-36436860	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36428800-36437000	Weak transcription	HSMMtube	muscle
2	chr19:36429000-36438000	Weak transcription	Osteobl	bone
3	chr19:36429200-36437000	Weak transcription	Psoas Muscle	Psoas
4	chr19:36429200-36438600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:36429400-36436200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr19:36429400-36438000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:36429400-36438000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr19:36429400-36440000	Weak transcription	A549	lung
9	chr19:36429600-36436200	Weak transcription	NHEK	skin
10	chr19:36429600-36436600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:36429600-36438000	Strong transcription	Fetal Stomach	stomach
12	chr19:36429600-36439600	Weak transcription	Fetal Lung	lung
13	chr19:36429600-36444200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr19:36429800-36438000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr19:36429800-36438000	Weak transcription	Colon Smooth Muscle	Colon
16	chr19:36429800-36438400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr19:36429800-36438600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr19:36429800-36438600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:36429800-36441000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr19:36430000-36450000	Weak transcription	Right Atrium	heart
21	chr19:36430200-36436800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr19:36430400-36435600	Strong transcription	Dnd41	blood
23	chr19:36430600-36436600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr19:36430800-36438400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr19:36431000-36438000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr19:36431800-36437600	Weak transcription	Left Ventricle	heart
27	chr19:36431800-36437800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr19:36431800-36437800	Weak transcription	Colonic Mucosa	Colon
29	chr19:36431800-36438000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr19:36431800-36438000	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr19:36431800-36438000	Weak transcription	NHLF	lung
32	chr19:36431800-36438200	Weak transcription	Brain Angular Gyrus	brain
33	chr19:36431800-36438600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr19:36431800-36440200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr19:36431800-36440400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr19:36431800-36442800	Weak transcription	Thymus	Thymus
37	chr19:36431800-36443000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:36432000-36438000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr19:36432200-36435600	Genic enhancers	Brain Germinal Matrix	brain
40	chr19:36432400-36437600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr19:36432400-36440200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr19:36433000-36435600	Strong transcription	Brain Anterior Caudate	brain
43	chr19:36433000-36436200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr19:36433000-36436400	Strong transcription	Primary T cells from cord blood	blood
45	chr19:36433000-36436600	Strong transcription	Lung	lung
46	chr19:36433000-36436800	Strong transcription	Brain Cingulate Gyrus	brain
47	chr19:36433000-36436800	Strong transcription	Stomach Smooth Muscle	stomach
48	chr19:36433200-36435600	Genic enhancers	Fetal Brain Female	brain
49	chr19:36433200-36437400	Strong transcription	Fetal Intestine Small	intestine
50	chr19:36433400-36435800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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