Variant report

Variant	rs16861272
Chromosome Location	chr2:173960905-173960906
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173956563..173958357-chr2:173960463..173962989,2	K562	blood:
2	chr2:173959860..173961985-chr2:173986864..173989225,2	MCF-7	breast:
3	chr2:173958321..173962110-chr2:173963955..173966177,3	K562	blood:
4	chr2:173955487..173959709-chr2:173960295..173962989,5	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12986917	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12987496	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12989116	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12997078	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs13004212	0.94[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13017210	0.85[ASN][1000 genomes]
rs13020796	0.82[ASN][1000 genomes]
rs13022800	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17302977	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17761169	0.86[ASN][1000 genomes]
rs2278883	0.88[ASN][1000 genomes]
rs34014656	0.88[ASN][1000 genomes]
rs34472765	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34658268	0.84[ASN][1000 genomes]
rs34681024	0.90[ASN][1000 genomes]
rs34702663	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35250703	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36102078	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36103648	0.81[ASN][1000 genomes]
rs3769194	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs3769199	0.94[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3769203	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56193548	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56342397	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6433395	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6741675	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67422536	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67683956	0.84[ASN][1000 genomes]
rs72905046	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72905080	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173941600-173969600	Weak transcription	Spleen	Spleen
2	chr2:173942800-173964600	Weak transcription	HUVEC	blood vessel
3	chr2:173942800-173971400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:173943000-173971200	Weak transcription	HSMMtube	muscle
5	chr2:173943400-173974200	Weak transcription	Fetal Intestine Large	intestine
6	chr2:173945400-173991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:173951400-173962000	Weak transcription	Brain Substantia Nigra	brain
8	chr2:173952000-173973400	Weak transcription	Hela-S3	cervix
9	chr2:173952200-173971400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:173953000-173968000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:173953800-173991400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:173954800-173963000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:173955400-173970200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:173955600-173964800	Weak transcription	Esophagus	oesophagus
15	chr2:173955600-173968600	Weak transcription	Placenta	Placenta
16	chr2:173955600-173971800	Weak transcription	Lung	lung
17	chr2:173955600-173972000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:173955600-173984000	Weak transcription	Gastric	stomach
19	chr2:173955800-173977200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:173956000-173963600	Weak transcription	HSMM	muscle
21	chr2:173956200-173964400	Weak transcription	GM12878-XiMat	blood
22	chr2:173956200-173969000	Weak transcription	NH-A	brain
23	chr2:173956600-173971600	Weak transcription	Fetal Thymus	thymus
24	chr2:173956800-173961000	Weak transcription	Fetal Intestine Small	intestine
25	chr2:173957000-173961000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:173957000-173963600	Weak transcription	Right Ventricle	heart
27	chr2:173957000-173964600	Weak transcription	Ovary	ovary
28	chr2:173957000-173964800	Weak transcription	Aorta	Aorta
29	chr2:173957000-173966800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:173957000-173974400	Weak transcription	Fetal Stomach	stomach
31	chr2:173957200-173961400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:173957600-173972000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr2:173957800-173961400	Weak transcription	Adipose Nuclei	Adipose
34	chr2:173957800-173963600	Weak transcription	Left Ventricle	heart
35	chr2:173957800-173964800	Weak transcription	Psoas Muscle	Psoas
36	chr2:173957800-173973400	Weak transcription	Fetal Lung	lung
37	chr2:173957800-173983800	Weak transcription	Fetal Muscle Leg	muscle
38	chr2:173958000-173961200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:173958000-173961800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:173958000-173964600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:173958000-173964600	Weak transcription	NHEK	skin
42	chr2:173958000-173983800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:173958200-173961400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:173958200-173964000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr2:173958200-173964200	Weak transcription	K562	blood
46	chr2:173958200-173964600	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr2:173958200-173964600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:173958200-173965000	Weak transcription	HMEC	breast
49	chr2:173958200-173965600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:173958200-173966200	Weak transcription	NHDF-Ad	bronchial

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