Variant report

Variant	rs17012191
Chromosome Location	chr4:87872056-87872057
allele	C/G
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	JUND	chr4:87872039-87872640	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:87871873..87875288-chr4:87927455..87929797,3	K562	blood:

Variant related genes	Relation type
TECRP1	TF binding region
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16996065	1.00[AFR][1000 genomes]
rs17012152	1.00[AFR][1000 genomes]
rs17012211	1.00[AFR][1000 genomes]
rs17012218	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87857600-87882000	Weak transcription	Spleen	Spleen
2	chr4:87857800-87880200	Weak transcription	HSMM	muscle
3	chr4:87858600-87881000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:87861000-87878000	Weak transcription	HMEC	breast
5	chr4:87861400-87877200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:87861400-87880800	Weak transcription	Aorta	Aorta
7	chr4:87861800-87878000	Weak transcription	Osteobl	bone
8	chr4:87861800-87880000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:87861800-87880600	Weak transcription	Fetal Kidney	kidney
10	chr4:87864000-87878000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:87864400-87874400	Weak transcription	Liver	Liver
12	chr4:87864400-87880600	Weak transcription	Gastric	stomach
13	chr4:87864400-87880800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr4:87864600-87874400	Weak transcription	Hela-S3	cervix
15	chr4:87866400-87877000	Weak transcription	A549	lung
16	chr4:87867400-87874200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr4:87868200-87880600	Weak transcription	Lung	lung
18	chr4:87868200-87881200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr4:87868400-87878200	Weak transcription	Primary B cells from cord blood	blood
20	chr4:87868400-87880000	Weak transcription	Thymus	Thymus
21	chr4:87868400-87880800	Weak transcription	Pancreas	Pancrea
22	chr4:87868400-87881400	Weak transcription	Colonic Mucosa	Colon
23	chr4:87868400-87891800	Weak transcription	Esophagus	oesophagus
24	chr4:87868600-87878400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr4:87868600-87886800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr4:87868600-87898000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:87868800-87874400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr4:87869000-87880800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr4:87869200-87878200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:87869400-87874600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr4:87869400-87877000	Strong transcription	Dnd41	blood
32	chr4:87869400-87881800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr4:87869600-87881200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr4:87869600-87882000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:87869600-87886200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr4:87869800-87872600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr4:87869800-87875200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr4:87869800-87877200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr4:87869800-87880600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:87869800-87880800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr4:87869800-87880800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr4:87869800-87888000	Weak transcription	HUVEC	blood vessel
43	chr4:87869800-87894000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr4:87870000-87872600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:87870000-87873400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:87870200-87872400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:87870200-87872800	Strong transcription	GM12878-XiMat	blood
48	chr4:87870200-87879600	Weak transcription	Stomach Mucosa	stomach
49	chr4:87870200-87880600	Weak transcription	Brain Substantia Nigra	brain
50	chr4:87870200-87880800	Weak transcription	Brain Hippocampus Middle	brain

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