Variant report

Variant	rs11889168
Chromosome Location	chr2:210893194-210893195
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	MAFK	chr2:210892919-210893288	IMR90	lung:	n/a	chr2:210893100-210893116 chr2:210893098-210893118 chr2:210893097-210893113 chr2:210893097-210893108 chr2:210893096-210893110 chr2:210893098-210893109 chr2:210893097-210893112 chr2:210893101-210893115 chr2:210893097-210893108
2	MAFK	chr2:210892924-210893268	K562	blood:	n/a	chr2:210893100-210893116 chr2:210893098-210893118 chr2:210893097-210893113 chr2:210893097-210893108 chr2:210893096-210893110 chr2:210893098-210893109 chr2:210893097-210893112 chr2:210893101-210893115 chr2:210893097-210893108
3	MAFF	chr2:210892898-210893297	HepG2	liver:	n/a	chr2:210893095-210893113 chr2:210893101-210893115
4	POLR2A	chr2:210892596-210893307	GM12892	blood:	n/a	n/a
5	MAFF	chr2:210892927-210893289	K562	blood:	n/a	chr2:210893095-210893113 chr2:210893101-210893115
6	NFIC	chr2:210892762-210893369	ECC-1	luminal epithelium:	n/a	n/a
7	MAFK	chr2:210892930-210893266	H1-hESC	embryonic stem cell:	n/a	chr2:210893100-210893116 chr2:210893098-210893118 chr2:210893097-210893113 chr2:210893097-210893108 chr2:210893096-210893110 chr2:210893098-210893109 chr2:210893097-210893112 chr2:210893101-210893115 chr2:210893097-210893108
8	POLR2A	chr2:210892433-210894868	Hela-S3	cervix:	n/a	n/a
9	FOXA1	chr2:210892798-210893226	ECC-1	luminal epithelium:	n/a	chr2:210893019-210893034
10	POLR2A	chr2:210892747-210893215	GM12892	blood:	n/a	n/a
11	MAFK	chr2:210892914-210893291	HepG2	liver:	n/a	chr2:210893100-210893116 chr2:210893098-210893118 chr2:210893097-210893113 chr2:210893097-210893108 chr2:210893096-210893110 chr2:210893098-210893109 chr2:210893097-210893112 chr2:210893101-210893115 chr2:210893097-210893108
12	MAFK	chr2:210892919-210893285	HepG2	liver:	n/a	chr2:210893100-210893116 chr2:210893098-210893118 chr2:210893097-210893113 chr2:210893097-210893108 chr2:210893096-210893110 chr2:210893098-210893109 chr2:210893097-210893112 chr2:210893101-210893115 chr2:210893097-210893108
13	POLR2A	chr2:210890345-210900284	K562	blood:	n/a	n/a
14	MAFK	chr2:210892924-210893274	Hela-S3	cervix:	n/a	chr2:210893100-210893116 chr2:210893098-210893118 chr2:210893097-210893113 chr2:210893097-210893108 chr2:210893096-210893110 chr2:210893098-210893109 chr2:210893097-210893112 chr2:210893101-210893115 chr2:210893097-210893108
15	POLR2A	chr2:210892703-210893240	GM12892	blood:	n/a	n/a
16	POLR2A	chr2:210892282-210894168	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:210892466..210894777-chr2:210895081..210897160,2	K562	blood:
2	chr2:210867212..210869682-chr2:210892589..210895075,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPE-4	chr2:210893141-210893880	ENSG00000272807.1

Variant related genes	Relation type
ENSG00000229127	TF binding region
ENSG00000197713	Chromatin interaction
ENSG00000229127	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10173943	0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10197463	0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10207166	0.80[AFR][1000 genomes]
rs2110315	0.94[YRI][hapmap]
rs2539008	0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2539009	0.95[YRI][hapmap];0.87[AMR][1000 genomes]
rs2539867	0.94[YRI][hapmap];0.84[AFR][1000 genomes]
rs6761902	1.00[YRI][hapmap]
rs73063904	0.85[AFR][1000 genomes]
rs73063905	0.85[AFR][1000 genomes]
rs7595390	0.95[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1004426	chr2:210709999-211001680	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
3	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210868000-210920000	Weak transcription	Spleen	Spleen
2	chr2:210868400-210899000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:210871000-210893800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:210871200-210893200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:210871200-210911400	Weak transcription	Psoas Muscle	Psoas
6	chr2:210872400-210893800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:210872600-210907600	Weak transcription	Stomach Mucosa	stomach
8	chr2:210872800-210894200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:210873000-210893800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:210874000-210920800	Weak transcription	Fetal Heart	heart
11	chr2:210874200-210893800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr2:210875000-210893200	Strong transcription	Liver	Liver
13	chr2:210879400-210894200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:210880200-210896200	Weak transcription	K562	blood
15	chr2:210881800-210953000	Weak transcription	Gastric	stomach
16	chr2:210882400-210911400	Weak transcription	Esophagus	oesophagus
17	chr2:210882400-210914600	Weak transcription	Small Intestine	intestine
18	chr2:210882400-210919400	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:210882400-210922800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:210882400-210927800	Weak transcription	Right Ventricle	heart
21	chr2:210882800-210911400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:210883000-210920600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:210883400-210911200	Weak transcription	Aorta	Aorta
24	chr2:210883400-210911200	Weak transcription	Pancreas	Pancrea
25	chr2:210883600-210911400	Weak transcription	Lung	lung
26	chr2:210884600-210911000	Weak transcription	Ovary	ovary
27	chr2:210884600-210912600	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:210885200-210896200	Weak transcription	NHEK	skin
29	chr2:210885200-210914400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:210887200-210893600	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:210887200-210896600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr2:210887800-210919600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:210888000-210913400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:210888200-210905400	Weak transcription	Fetal Brain Female	brain
35	chr2:210888400-210897000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:210889000-210893600	Weak transcription	Fetal Kidney	kidney
37	chr2:210889000-210898400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr2:210889000-210905400	Weak transcription	NHDF-Ad	bronchial
39	chr2:210889000-210909200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr2:210889000-210911400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:210889000-210911400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:210889000-210912200	Weak transcription	HMEC	breast
43	chr2:210889000-210919400	Weak transcription	HSMMtube	muscle
44	chr2:210889000-210920200	Weak transcription	Fetal Brain Male	brain
45	chr2:210889000-210925600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr2:210889200-210893200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:210889200-210895000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:210889200-210896400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr2:210889200-210898600	Weak transcription	GM12878-XiMat	blood
50	chr2:210889200-210902800	Weak transcription	Primary hematopoietic stem cells	blood

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