Variant report

Variant	rs16861417
Chromosome Location	chr2:174104705-174104706
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:174104088..174106166-chr2:174113223..174115189,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10169914	0.86[CHB][hapmap]
rs10497400	0.82[CHB][hapmap]
rs1345010	0.82[CHB][hapmap]
rs16861406	1.00[ASW][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16861441	0.81[CHB][hapmap]
rs17742685	0.82[CEU][hapmap]
rs2119123	0.82[CHB][hapmap]
rs3739103	0.91[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs3754737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3754738	0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs3769150	0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3769151	0.91[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3769152	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3769154	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs3820831	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3820832	0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs4972538	0.86[CHB][hapmap]
rs72625241	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72625242	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7425411	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174058000-174112800	Weak transcription	Spleen	Spleen
2	chr2:174083400-174136400	Weak transcription	Esophagus	oesophagus
3	chr2:174083800-174119200	Weak transcription	HMEC	breast
4	chr2:174092200-174109400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:174092800-174109200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:174093800-174106800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr2:174094800-174114600	Weak transcription	HUVEC	blood vessel
8	chr2:174096000-174128800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:174096200-174118200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:174096400-174107000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:174096400-174109200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:174096400-174112600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:174096600-174105600	Strong transcription	Stomach Smooth Muscle	stomach
14	chr2:174096600-174110800	Weak transcription	Small Intestine	intestine
15	chr2:174096600-174128800	Weak transcription	Pancreas	Pancrea
16	chr2:174096600-174130800	Weak transcription	Gastric	stomach
17	chr2:174096800-174108200	Weak transcription	Fetal Heart	heart
18	chr2:174096800-174108400	Strong transcription	Adipose Nuclei	Adipose
19	chr2:174097600-174106400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:174098000-174106800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:174098000-174109000	Weak transcription	Primary B cells from cord blood	blood
22	chr2:174098000-174128800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:174098000-174130600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:174098200-174124000	Weak transcription	NH-A	brain
25	chr2:174098400-174104800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:174098400-174125600	Weak transcription	Right Ventricle	heart
27	chr2:174098800-174106000	Weak transcription	Aorta	Aorta
28	chr2:174098800-174124000	Weak transcription	Dnd41	blood
29	chr2:174099000-174105600	Weak transcription	Fetal Thymus	thymus
30	chr2:174099000-174124000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:174099400-174123600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:174099600-174104800	Weak transcription	Left Ventricle	heart
33	chr2:174099600-174106200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:174099600-174120200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:174099600-174123400	Weak transcription	A549	lung
36	chr2:174099600-174134400	Weak transcription	Placenta	Placenta
37	chr2:174100000-174104800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:174100000-174105600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:174100200-174109600	Weak transcription	Fetal Brain Male	brain
40	chr2:174100400-174123400	Weak transcription	NHDF-Ad	bronchial
41	chr2:174100800-174105000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr2:174100800-174113400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:174101200-174105200	Strong transcription	Fetal Muscle Leg	muscle
44	chr2:174101400-174105400	Strong transcription	Liver	Liver
45	chr2:174101600-174104800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:174101600-174104800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:174101600-174106400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:174101600-174107000	Strong transcription	Ovary	ovary
49	chr2:174101600-174109600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:174101600-174114000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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