Variant report

Variant	rs74125078
Chromosome Location	chr13:111369761-111369762
allele	A/C
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	CTCF	chr13:111369640-111369790	BE2_C	brain:	n/a	chr13:111369644-111369653 chr13:111369643-111369656
2	RAD21	chr13:111369577-111369817	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr13:111369560-111369810	HAc	cerebellar:	n/a	chr13:111369644-111369653 chr13:111369643-111369656
4	MAZ	chr13:111369702-111369902	K562	blood:	n/a	n/a
5	RAD21	chr13:111369544-111369799	HepG2	liver:	n/a	n/a
6	ARID3A	chr13:111369540-111370029	K562	blood:	n/a	n/a
7	CTCF	chr13:111369620-111369770	GM12878	blood:	n/a	chr13:111369644-111369653 chr13:111369643-111369656
8	CTCF	chr13:111369680-111369830	HFF-Myc	foreskin:	n/a	n/a
9	GATA3	chr13:111369578-111370004	MCF-7	breast:	n/a	chr13:111369806-111369813 chr13:111369801-111369817 chr13:111369799-111369820 chr13:111369804-111369813 chr13:111369806-111369813 chr13:111369806-111369813
10	CTCF	chr13:111369620-111369770	HCT-116	colon:	n/a	chr13:111369644-111369653 chr13:111369643-111369656
11	CTCF	chr13:111369640-111369790	GM12875	blood:	n/a	chr13:111369644-111369653 chr13:111369643-111369656
12	CTCF	chr13:111369628-111369815	K562	blood:	n/a	chr13:111369644-111369653 chr13:111369643-111369656
13	GATA2	chr13:111369687-111369976	HUVEC	blood vessel:	n/a	chr13:111369806-111369813 chr13:111369801-111369817 chr13:111369799-111369820 chr13:111369804-111369813 chr13:111369806-111369813 chr13:111369806-111369813
14	CTCF	chr13:111369296-111369859	IMR90	lung:	n/a	chr13:111369644-111369653 chr13:111369643-111369656
15	CTCF	chr13:111369620-111369770	HMF	breast:	n/a	chr13:111369644-111369653 chr13:111369643-111369656
16	SMC3	chr13:111369552-111369838	Hela-S3	cervix:	n/a	chr13:111369643-111369651 chr13:111369647-111369654 chr13:111369640-111369654
17	CTCF	chr13:111369620-111369770	NHLF	lung:	n/a	chr13:111369644-111369653 chr13:111369643-111369656
18	CTCF	chr13:111369660-111369810	SAEC	small airway:	n/a	n/a
19	CTCF	chr13:111369640-111369790	BJ	skin:	n/a	chr13:111369644-111369653 chr13:111369643-111369656
20	KAP1	chr13:111369760-111370112	HEK293	kidney:	n/a	n/a
21	CTCF	chr13:111369680-111369830	AG04450	lung:	n/a	n/a
22	SMC3	chr13:111369616-111369770	HepG2	liver:	n/a	chr13:111369643-111369651 chr13:111369647-111369654 chr13:111369640-111369654
23	POLR2A	chr13:111369627-111369786	MCF10A-Er-Src	breast:	n/a	n/a
24	CTCF	chr13:111369620-111369770	HCPEpiC	choroid plexus:	n/a	chr13:111369644-111369653 chr13:111369643-111369656

No.	Distal block	Cell Line	Cell type
1	chr13:111368690..111370299-chr13:111564717..111567433,3	MCF-7	breast:
2	chr13:111368423..111371345-chr13:111411343..111413791,2	K562	blood:
3	chr13:111368227..111372332-chr13:111523767..111528470,4	MCF-7	breast:
4	chr13:111369238..111370926-chr13:111469808..111471332,2	K562	blood:
5	chr13:111362764..111370771-chr13:111560775..111570046,21	K562	blood:
6	chr13:111368353..111369986-chr16:2908278..2910664,2	MCF-7	breast:
7	chr13:111265756..111270693-chr13:111363417..111370660,10	K562	blood:
8	chr13:111368245..111370564-chr13:111427344..111430230,3	K562	blood:

Variant related genes	Relation type
CARS2	TF binding region
ENSG00000213995	Chromatin interaction
ENSG00000088448	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs34192103	1.00[AFR][1000 genomes]
rs55912497	1.00[AFR][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	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
2	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
3	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
4	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
5	nsv901014	chr13:111302922-111380684	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	197 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111363600-111370000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr13:111363600-111370000	Active TSS	K562	blood
3	chr13:111363600-111370400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr13:111363600-111370800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:111363800-111369800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr13:111363800-111369800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:111363800-111369800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr13:111363800-111369800	Active TSS	Psoas Muscle	Psoas
9	chr13:111363800-111370200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr13:111363800-111370400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr13:111363800-111370600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:111363800-111370800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:111364000-111370200	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr13:111364000-111370200	Active TSS	Colonic Mucosa	Colon
15	chr13:111364000-111370200	Active TSS	Fetal Intestine Large	intestine
16	chr13:111364000-111370200	Active TSS	Fetal Intestine Small	intestine
17	chr13:111364000-111370400	Active TSS	H1 Cell Line	embryonic stem cell
18	chr13:111364200-111369800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:111364200-111369800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:111364200-111369800	Active TSS	Ovary	ovary
21	chr13:111364200-111369800	Active TSS	HSMM	muscle
22	chr13:111364200-111369800	Active TSS	NHDF-Ad	bronchial
23	chr13:111364200-111370000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr13:111364200-111370000	Active TSS	Duodenum Mucosa	Duodenum
25	chr13:111364200-111370000	Active TSS	Rectal Smooth Muscle	rectum
26	chr13:111364400-111369800	Active TSS	Hela-S3	cervix
27	chr13:111364400-111370800	Active TSS	NHLF	lung
28	chr13:111365400-111369800	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr13:111368000-111369800	Active TSS	Right Atrium	heart
30	chr13:111368200-111370200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr13:111368600-111370000	Flanking Active TSS	Dnd41	blood
32	chr13:111368600-111370000	Flanking Active TSS	HUVEC	blood vessel
33	chr13:111368600-111370200	Flanking Active TSS	Liver	Liver
34	chr13:111368800-111369800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr13:111368800-111369800	Flanking Active TSS	Fetal Kidney	kidney
36	chr13:111368800-111370200	Flanking Active TSS	Fetal Lung	lung
37	chr13:111368800-111370200	Active TSS	HepG2	liver
38	chr13:111368800-111370600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr13:111368800-111370800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr13:111368800-111370800	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr13:111368800-111371200	Weak transcription	Gastric	stomach
42	chr13:111368800-111371200	Weak transcription	Spleen	Spleen
43	chr13:111368800-111371600	Weak transcription	Small Intestine	intestine
44	chr13:111369000-111369800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr13:111369000-111369800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr13:111369000-111369800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr13:111369000-111369800	Weak transcription	Pancreas	Pancrea
48	chr13:111369000-111370000	Enhancers	Primary T cells from cord blood	blood
49	chr13:111369000-111370000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr13:111369000-111370000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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