Variant report

Variant	rs17046199
Chromosome Location	chr4:166244967-166244968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:166244950-166245046	K562	blood:	n/a	n/a
2	EP300	chr4:166244915-166245058	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:166239973..166242709-chr4:166243762..166246150,2	K562	blood:
2	chr4:166241161..166246185-chr4:166246562..166251046,7	K562	blood:
3	chr4:166127801..166130202-chr4:166242915..166245311,2	K562	blood:
4	chr4:166244172..166245790-chr4:166246956..166248880,2	K562	blood:

No data

Variant related genes	Relation type
MSMO1	TF binding region
ENSG00000109466	Chromatin interaction
ENSG00000170088	Chromatin interaction
ENSG00000052802	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10222790	1.00[EUR][1000 genomes]
rs10517835	1.00[MEX][hapmap]
rs1059209	1.00[MEX][hapmap]
rs1059210	1.00[MEX][hapmap]
rs1370688	1.00[EUR][1000 genomes]
rs13918	1.00[MEX][hapmap]
rs2241816	1.00[MEX][hapmap]
rs28373383	1.00[EUR][1000 genomes]
rs28540812	1.00[EUR][1000 genomes]
rs28547097	1.00[EUR][1000 genomes]
rs56207699	1.00[EUR][1000 genomes]
rs57198322	1.00[EUR][1000 genomes]
rs57508190	1.00[EUR][1000 genomes]
rs60786866	1.00[EUR][1000 genomes]
rs73860770	1.00[EUR][1000 genomes]
rs73860771	1.00[EUR][1000 genomes]
rs73860772	1.00[EUR][1000 genomes]
rs73860783	1.00[EUR][1000 genomes]
rs73860785	1.00[EUR][1000 genomes]
rs73860786	1.00[EUR][1000 genomes]
rs73860789	1.00[EUR][1000 genomes]
rs73860791	1.00[EUR][1000 genomes]
rs73860793	1.00[EUR][1000 genomes]
rs73860794	1.00[EUR][1000 genomes]
rs73860795	1.00[EUR][1000 genomes]
rs73860796	1.00[EUR][1000 genomes]
rs73860797	1.00[EUR][1000 genomes]
rs73862311	1.00[EUR][1000 genomes]
rs73863706	1.00[EUR][1000 genomes]
rs73863707	1.00[EUR][1000 genomes]
rs73863709	1.00[EUR][1000 genomes]
rs73863713	1.00[EUR][1000 genomes]
rs7680390	1.00[EUR][1000 genomes]
rs7698358	1.00[EUR][1000 genomes]
rs7698407	1.00[EUR][1000 genomes]
rs7699952	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166214400-166246600	Weak transcription	Placenta	Placenta
2	chr4:166219400-166246600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:166219400-166246600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:166219600-166246800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:166220000-166246600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:166220000-166247000	Weak transcription	Spleen	Spleen
7	chr4:166220000-166247400	Weak transcription	Fetal Stomach	stomach
8	chr4:166220000-166247800	Weak transcription	Right Ventricle	heart
9	chr4:166223400-166246400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:166223400-166246600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:166223400-166246600	Weak transcription	Esophagus	oesophagus
12	chr4:166223400-166246600	Weak transcription	HSMM	muscle
13	chr4:166223400-166246600	Weak transcription	HSMMtube	muscle
14	chr4:166223400-166246800	Weak transcription	Ovary	ovary
15	chr4:166223400-166247400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:166223400-166247600	Weak transcription	Thymus	Thymus
17	chr4:166223400-166247800	Weak transcription	Aorta	Aorta
18	chr4:166223400-166248000	Weak transcription	Gastric	stomach
19	chr4:166223600-166246600	Weak transcription	GM12878-XiMat	blood
20	chr4:166223600-166247000	Weak transcription	Brain Anterior Caudate	brain
21	chr4:166223600-166247200	Weak transcription	Brain Angular Gyrus	brain
22	chr4:166223600-166247200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:166223600-166247400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr4:166223600-166247400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr4:166223600-166247600	Weak transcription	Fetal Lung	lung
26	chr4:166223800-166247600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:166224200-166247400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:166224200-166247600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr4:166224400-166247600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr4:166230400-166245200	Weak transcription	NHEK	skin
31	chr4:166230400-166246400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:166230600-166245400	Weak transcription	HMEC	breast
33	chr4:166230800-166246600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr4:166230800-166246800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr4:166230800-166247000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:166230800-166247400	Weak transcription	Brain Germinal Matrix	brain
37	chr4:166230800-166247400	Weak transcription	Fetal Muscle Leg	muscle
38	chr4:166231800-166246800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr4:166232000-166246600	Weak transcription	NH-A	brain
40	chr4:166232000-166247200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr4:166232000-166247200	Weak transcription	Brain Substantia Nigra	brain
42	chr4:166232800-166247200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr4:166233000-166248000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr4:166233400-166246400	Weak transcription	HepG2	liver
45	chr4:166233400-166246600	Weak transcription	Pancreas	Pancrea
46	chr4:166233400-166247000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr4:166233400-166247200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr4:166233400-166247600	Weak transcription	Adipose Nuclei	Adipose
49	chr4:166233400-166247800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr4:166233400-166248000	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links