Variant report

Variant	rs72661656
Chromosome Location	chr13:111287344-111287345
allele	C/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	POLR2A	chr13:111286963-111288239	HepG2	liver:	n/a	n/a
2	MXI1	chr13:111286690-111287403	IMR90	lung:	n/a	n/a
3	MAX	chr13:111286790-111287384	SK-N-SH	brain:	n/a	chr13:111287087-111287097
4	POLR2A	chr13:111287182-111287892	GM12878	blood:	n/a	n/a
5	POLR2A	chr13:111286846-111300127	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr13:111286695-111289730	GM12892	blood:	n/a	n/a
7	POLR2A	chr13:111286991-111287500	MCF-7	breast:	n/a	n/a
8	POLR2A	chr13:111287241-111287555	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr13:111286872-111287463	HL-60	blood:	n/a	n/a
10	POLR2A	chr13:111287060-111288118	GM12892	blood:	n/a	n/a
11	POLR2A	chr13:111287060-111287402	GM12878	blood:	n/a	n/a
12	POLR2A	chr13:111287097-111287497	K562	blood:	n/a	n/a
13	POLR2A	chr13:111286749-111288325	U87	brain:	n/a	n/a
14	POLR2A	chr13:111286814-111287418	GM12878	blood:	n/a	n/a
15	POLR2A	chr13:111286529-111288451	U87	brain:	n/a	n/a
16	MAX	chr13:111286808-111287366	ECC-1	luminal epithelium:	n/a	chr13:111287087-111287097
17	CTCF	chr13:111287200-111287350	HAc	cerebellar:	n/a	chr13:111287252-111287265 chr13:111287252-111287265
18	JUND	chr13:111286794-111287434	SK-N-SH	brain:	n/a	chr13:111287124-111287132
19	POLR2A	chr13:111286647-111287517	U87	brain:	n/a	n/a
20	MAX	chr13:111286793-111287413	A549	lung:	n/a	chr13:111287087-111287097
21	POLR2A	chr13:111287265-111288183	GM12878	blood:	n/a	n/a
22	POLR2A	chr13:111286761-111292199	GM12878	blood:	n/a	n/a
23	POLR2A	chr13:111287086-111287380	MCF-7	breast:	n/a	n/a
24	MAX	chr13:111286822-111287446	ECC-1	luminal epithelium:	n/a	chr13:111287087-111287097

No.	Distal block	Cell Line	Cell type
1	chr13:111286262..111288544-chr13:111335123..111337975,2	K562	blood:
2	chr13:111286170..111289373-chr13:111362877..111366767,3	K562	blood:
3	chr13:111285638..111287730-chr13:111364678..111367940,3	MCF-7	breast:
4	chr13:111287003..111289809-chr13:111566070..111568939,2	K562	blood:

Variant related genes	Relation type
ENSG00000255831	TF binding region
ENSG00000153487	Chromatin interaction
ENSG00000134905	Chromatin interaction
ENSG00000088448	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1041143	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1041173	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11069855	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11069856	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11620520	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12428965	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12429905	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12430333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12583083	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2011692	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2148081	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274411	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28384426	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3742193	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742194	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742196	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783097	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825465	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825466	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825467	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4771700	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4771701	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4773230	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61103246	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72661645	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72661647	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72661650	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72661657	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7322067	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7323602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7981194	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7981780	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7995119	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9583518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9588207	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9588209	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9588214	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832720	chr13:111100235-111295993	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1044234	chr13:111143053-111370580	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
3	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1053922	chr13:111167764-111330876	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats 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 target site	25 gene(s)	inside rSNPs	diseases
5	nsv1043849	chr13:111167764-111340418	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv541924	chr13:111167764-111340418	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1036160	chr13:111167764-111347308	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv541925	chr13:111167764-111347308	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv901012	chr13:111220842-111340342	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
11	nsv563123	chr13:111237260-111292044	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv563124	chr13:111261267-111300943	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
14	nsv456120	chr13:111280002-111309617	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	n/a
15	nsv563125	chr13:111280002-111309617	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	n/a
16	nsv1042232	chr13:111282123-111348475	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111270800-111296800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:111275600-111287400	Weak transcription	K562	blood
3	chr13:111280800-111328600	Weak transcription	Psoas Muscle	Psoas
4	chr13:111281400-111288600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr13:111281400-111293000	Weak transcription	Right Atrium	heart
6	chr13:111282000-111309600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr13:111282800-111310000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr13:111283800-111287400	Weak transcription	Fetal Kidney	kidney
9	chr13:111285800-111296800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr13:111286000-111287400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
11	chr13:111286000-111287400	Genic enhancers	Osteobl	bone
12	chr13:111286000-111289400	Strong transcription	Liver	Liver
13	chr13:111286000-111297000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr13:111286000-111297000	Strong transcription	Fetal Intestine Large	intestine
15	chr13:111286000-111297000	Strong transcription	Fetal Intestine Small	intestine
16	chr13:111286000-111297200	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr13:111286000-111297400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr13:111286000-111298200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr13:111286200-111287400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:111286200-111288000	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr13:111286200-111288000	Strong transcription	Stomach Smooth Muscle	stomach
22	chr13:111286200-111288600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr13:111286200-111289200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr13:111286200-111291800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr13:111286200-111292400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr13:111286200-111292600	Strong transcription	Fetal Muscle Trunk	muscle
27	chr13:111286200-111293000	Strong transcription	Colon Smooth Muscle	Colon
28	chr13:111286200-111293000	Strong transcription	Fetal Stomach	stomach
29	chr13:111286200-111293200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr13:111286200-111296200	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr13:111286200-111296800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr13:111286200-111296800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr13:111286200-111296800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr13:111286200-111296800	Strong transcription	Gastric	stomach
35	chr13:111286200-111297000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr13:111286200-111297000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr13:111286200-111297000	Strong transcription	Fetal Thymus	thymus
38	chr13:111286200-111297200	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr13:111286200-111297400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr13:111286200-111299600	Strong transcription	Placenta	Placenta
41	chr13:111286200-111308400	Strong transcription	Dnd41	blood
42	chr13:111286400-111287400	Weak transcription	HUVEC	blood vessel
43	chr13:111286400-111287800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr13:111286400-111290000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
45	chr13:111286400-111292600	Strong transcription	GM12878-XiMat	blood
46	chr13:111286400-111293000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr13:111286400-111293000	Strong transcription	Fetal Muscle Leg	muscle
48	chr13:111286400-111293800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr13:111286400-111296800	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr13:111286400-111296800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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