Variant report

Variant	rs61570618
Chromosome Location	chr2:178498949-178498950
allele	A/C
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	chr2:178497999..178500939-chr2:178626259..178628565,2	K562	blood:
2	chr2:178196424..178198872-chr2:178498721..178501636,2	K562	blood:
3	chr2:178494059..178496707-chr2:178497248..178499887,2	K562	blood:
4	chr2:178485267..178487759-chr2:178497863..178500182,2	K562	blood:
5	chr2:178482484..178484569-chr2:178497443..178499895,2	K562	blood:
6	chr2:178490562..178493751-chr2:178498705..178503907,5	K562	blood:
7	chr2:178489030..178493776-chr2:178494411..178499893,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197557	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10497494	1.00[ASN][1000 genomes]
rs10497495	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1106074	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1527405	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1527408	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16865452	0.92[ASN][1000 genomes]
rs16865453	0.85[ASN][1000 genomes]
rs16865475	0.84[ASN][1000 genomes]
rs16865492	0.86[ASN][1000 genomes]
rs16865501	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865508	1.00[ASN][1000 genomes]
rs16865509	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865514	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865524	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2178018	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293472	0.84[ASN][1000 genomes]
rs2293473	0.84[ASN][1000 genomes]
rs2365618	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731803	0.81[ASN][1000 genomes]
rs3731806	0.82[ASN][1000 genomes]
rs3821005	0.82[ASN][1000 genomes]
rs4144277	0.92[ASN][1000 genomes]
rs5025339	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57000468	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57401542	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57479066	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57595473	0.84[ASN][1000 genomes]
rs58970701	1.00[ASN][1000 genomes]
rs59275027	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59963196	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60941291	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61311927	0.86[ASN][1000 genomes]
rs61425825	1.00[ASN][1000 genomes]
rs61457959	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745743	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6746845	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73977682	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73977683	0.92[EUR][1000 genomes];0.91[ASN][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	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv583689	chr2:178468008-178509820	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178484000-178499200	Weak transcription	Pancreas	Pancrea
2	chr2:178494200-178499200	Weak transcription	Left Ventricle	heart
3	chr2:178497200-178499400	Enhancers	Dnd41	blood
4	chr2:178497600-178499000	Enhancers	Brain Germinal Matrix	brain
5	chr2:178498400-178499000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:178498600-178499000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr2:178498600-178499000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:178498600-178499000	Flanking Active TSS	Fetal Brain Female	brain
9	chr2:178498600-178499000	Flanking Active TSS	GM12878-XiMat	blood
10	chr2:178498600-178499200	Enhancers	Fetal Muscle Leg	muscle
11	chr2:178498600-178499200	Active TSS	A549	lung
12	chr2:178498600-178499600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:178498600-178500000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr2:178498800-178499000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr2:178498800-178499000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr2:178498800-178499000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr2:178498800-178499000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:178498800-178499000	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr2:178498800-178499000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr2:178498800-178499000	Active TSS	Adipose Nuclei	Adipose
21	chr2:178498800-178499000	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr2:178498800-178499000	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr2:178498800-178499000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr2:178498800-178499000	Flanking Active TSS	Rectal Smooth Muscle	rectum
25	chr2:178498800-178499000	Flanking Active TSS	HSMMtube	muscle
26	chr2:178498800-178499000	Flanking Active TSS	K562	blood
27	chr2:178498800-178499200	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr2:178498800-178499200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:178498800-178499200	Active TSS	Aorta	Aorta
30	chr2:178498800-178499200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr2:178498800-178499200	Flanking Active TSS	Fetal Brain Male	brain
32	chr2:178498800-178499200	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr2:178498800-178499200	Flanking Active TSS	Fetal Lung	lung
34	chr2:178498800-178499200	Active TSS	HMEC	breast
35	chr2:178498800-178499200	Active TSS	NH-A	brain
36	chr2:178498800-178499200	Active TSS	NHEK	skin
37	chr2:178498800-178499400	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr2:178498800-178499400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:178498800-178499400	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr2:178498800-178499400	Active TSS	Right Ventricle	heart
41	chr2:178498800-178499400	Active TSS	Thymus	Thymus
42	chr2:178498800-178499400	Active TSS	NHLF	lung
43	chr2:178498800-178499400	Active TSS	Osteobl	bone
44	chr2:178498800-178499600	Active TSS	H1 Cell Line	embryonic stem cell
45	chr2:178498800-178499600	Active TSS	H9 Cell Line	embryonic stem cell
46	chr2:178498800-178499600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:178498800-178499600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:178498800-178499600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:178498800-178499600	Active TSS	Brain Angular Gyrus	brain
50	chr2:178498800-178499600	Active TSS	Fetal Kidney	kidney

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