Variant report

Variant	rs6434191
Chromosome Location	chr2:187492051-187492052
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:187491059..187492961-chr2:187494922..187496804,2	K562	blood:
2	chr2:187489867..187492397-chr2:187494469..187496444,2	MCF-7	breast:
3	chr2:187490730..187492855-chr2:187515973..187518041,2	K562	blood:
4	chr2:187380709..187383265-chr2:187491364..187493572,2	K562	blood:
5	chr2:187365220..187368794-chr2:187491092..187495037,4	K562	blood:
6	chr2:187487385..187490996-chr2:187491673..187498174,5	K562	blood:
7	chr2:187488598..187492559-chr2:187493903..187496422,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268846	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10168089	1.00[AFR][1000 genomes]
rs10198568	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs1451873	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs1869029	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2119864	0.85[AFR][1000 genomes]
rs2230616	0.84[AFR][1000 genomes]
rs2595393	0.84[AFR][1000 genomes]
rs3843325	1.00[AFR][1000 genomes]
rs6434189	0.92[AFR][1000 genomes]
rs6733148	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs7577982	1.00[YRI][hapmap]

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	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv875552	chr2:187393729-187505486	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2756956	chr2:187416599-187492742	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187456200-187508600	Weak transcription	Esophagus	oesophagus
2	chr2:187456200-187533000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:187456400-187504000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:187456600-187514000	Weak transcription	Thymus	Thymus
5	chr2:187456600-187520000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:187456800-187493400	Weak transcription	Brain Germinal Matrix	brain
7	chr2:187456800-187534400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:187457200-187506000	Weak transcription	Liver	Liver
9	chr2:187457200-187533800	Weak transcription	Spleen	Spleen
10	chr2:187458000-187511400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:187458000-187529000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:187459400-187505600	Weak transcription	NHLF	lung
13	chr2:187460200-187506200	Weak transcription	Small Intestine	intestine
14	chr2:187462600-187500600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:187462800-187515400	Weak transcription	Gastric	stomach
16	chr2:187464800-187536200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:187465800-187529200	Weak transcription	Dnd41	blood
18	chr2:187466800-187533200	Weak transcription	Colonic Mucosa	Colon
19	chr2:187467200-187528600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:187467400-187515800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr2:187467600-187506000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:187468800-187504000	Weak transcription	NHDF-Ad	bronchial
23	chr2:187469000-187501800	Weak transcription	Fetal Intestine Small	intestine
24	chr2:187471400-187502200	Weak transcription	NHEK	skin
25	chr2:187471600-187521000	Weak transcription	Aorta	Aorta
26	chr2:187476000-187519800	Weak transcription	K562	blood
27	chr2:187476600-187508600	Weak transcription	Lung	lung
28	chr2:187476800-187536200	Weak transcription	Fetal Brain Male	brain
29	chr2:187477400-187502400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr2:187478600-187502600	Weak transcription	GM12878-XiMat	blood
31	chr2:187482200-187533800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:187482800-187501200	Weak transcription	Ovary	ovary
33	chr2:187482800-187501200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:187482800-187506000	Weak transcription	Fetal Kidney	kidney
35	chr2:187482800-187519600	Weak transcription	Brain Anterior Caudate	brain
36	chr2:187482800-187527800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:187482800-187533200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr2:187482800-187533600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr2:187482800-187533800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:187482800-187533800	Weak transcription	Psoas Muscle	Psoas
41	chr2:187483000-187494000	Weak transcription	Brain Angular Gyrus	brain
42	chr2:187483200-187502400	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:187483400-187493000	Weak transcription	Brain Substantia Nigra	brain
44	chr2:187483400-187494000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr2:187483400-187519800	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:187485600-187493800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:187486000-187492600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:187486000-187493600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:187486200-187493600	Strong transcription	NH-A	brain
50	chr2:187486400-187506000	Weak transcription	H1 Cell Line	embryonic stem cell

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