Variant report

Variant	rs16867136
Chromosome Location	chr2:180868393-180868394
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:180868081..180870113-chr2:205110359..205111860,2	K562	blood:
2	chr2:180650807..180652481-chr2:180868354..180871032,2	K562	blood:
3	chr2:180853987..180858139-chr2:180866524..180870001,3	MCF-7	breast:
4	chr2:180854973..180857186-chr2:180866635..180869075,2	MCF-7	breast:
5	chr2:180687765..180690198-chr2:180866903..180869093,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1046356	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10497555	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.98[ASN][1000 genomes]
rs12613483	0.88[ASN][1000 genomes]
rs12618422	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12621365	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12623020	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12693216	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16823586	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16867114	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16867119	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16867125	0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16867133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16867140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs259808	0.87[ASN][1000 genomes]
rs262279	1.00[ASN][1000 genomes]
rs3738943	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3768837	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3768839	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3845695	0.87[ASN][1000 genomes]
rs3845697	0.88[ASN][1000 genomes]
rs3845702	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3907347	0.88[ASN][1000 genomes]
rs3912257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3914458	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4893886	0.91[ASN][1000 genomes]
rs56213876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6433822	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6726846	0.85[ASN][1000 genomes]
rs72958832	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72958838	0.84[ASN][1000 genomes]
rs72958887	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72960663	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72960669	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72960671	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72960679	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs818659	0.97[ASN][1000 genomes]
rs9989852	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875472	chr2:180696414-181024926	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv875473	chr2:180696414-181055597	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1006598	chr2:180766983-180923051	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv531444	chr2:180796233-181434590	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv834473	chr2:180864256-181030940	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180809400-180871000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:180816800-180868400	Weak transcription	Pancreas	Pancrea
3	chr2:180816800-180869000	Weak transcription	Spleen	Spleen
4	chr2:180816800-180870600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:180819000-180871000	Weak transcription	Esophagus	oesophagus
6	chr2:180823400-180870600	Weak transcription	Fetal Intestine Small	intestine
7	chr2:180829600-180871200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:180830800-180871000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:180836800-180870400	Weak transcription	A549	lung
10	chr2:180839800-180870400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:180843000-180870200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:180846800-180869800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:180849000-180869600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:180850600-180870800	Weak transcription	HSMMtube	muscle
15	chr2:180851000-180870200	Weak transcription	Hela-S3	cervix
16	chr2:180851600-180870400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:180851800-180870400	Weak transcription	HUVEC	blood vessel
18	chr2:180852200-180870600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:180853600-180869600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:180856600-180870400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:180857200-180870000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:180857200-180870400	Weak transcription	Brain Anterior Caudate	brain
23	chr2:180857200-180870400	Weak transcription	Thymus	Thymus
24	chr2:180857200-180871000	Weak transcription	Lung	lung
25	chr2:180857600-180869800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:180857800-180870400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:180857800-180870400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:180857800-180870600	Weak transcription	NHLF	lung
29	chr2:180857800-180870800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:180857800-180870800	Weak transcription	Fetal Intestine Large	intestine
31	chr2:180858000-180869000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:180858000-180869600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr2:180858000-180869800	Weak transcription	Adipose Nuclei	Adipose
34	chr2:180858000-180869800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:180858000-180870000	Weak transcription	Left Ventricle	heart
36	chr2:180858000-180870400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:180858000-180870400	Weak transcription	Brain Angular Gyrus	brain
38	chr2:180858000-180870400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:180858000-180870400	Weak transcription	Fetal Lung	lung
40	chr2:180858000-180870600	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:180858000-180870800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr2:180858200-180868400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:180858200-180868800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:180858200-180869000	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr2:180858200-180869600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:180858200-180869600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:180858200-180869600	Weak transcription	Osteobl	bone
48	chr2:180858200-180869800	Weak transcription	Liver	Liver
49	chr2:180858200-180870400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:180858200-180870400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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