Variant report

Variant	rs16861304
Chromosome Location	chr2:174039497-174039498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:174031458..174032993-chr2:174038547..174040630,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11901996	1.00[CEU][hapmap];0.85[GIH][hapmap];0.86[TSI][hapmap]
rs12996371	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs16861266	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs16861279	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs16861295	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16861323	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2053964	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs2119123	0.85[JPT][hapmap]
rs2119124	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2289395	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs3769155	0.83[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];0.89[MEX][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3769164	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs3769166	0.88[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3769175	0.81[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3769176	1.00[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.85[TSI][hapmap];0.97[ASN][1000 genomes]
rs3769179	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3769183	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs3769206	0.82[CHB][hapmap]
rs4632313	0.82[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap]
rs58407376	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59935415	0.98[ASN][1000 genomes]
rs61183795	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6433398	0.85[CEU][hapmap]
rs6717067	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6725795	1.00[CEU][hapmap]
rs6753354	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73971702	0.97[ASN][1000 genomes]
rs7566222	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs7571788	0.97[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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174015400-174047000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:174016200-174048800	Weak transcription	K562	blood
3	chr2:174026000-174069000	Weak transcription	Primary B cells from cord blood	blood
4	chr2:174026200-174040600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:174026200-174045000	Weak transcription	Fetal Intestine Small	intestine
6	chr2:174026400-174039600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:174026400-174047600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:174026600-174048800	Weak transcription	Liver	Liver
9	chr2:174026600-174083200	Weak transcription	Esophagus	oesophagus
10	chr2:174028200-174044200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:174028400-174054600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:174030000-174052200	Weak transcription	Fetal Lung	lung
13	chr2:174031200-174046600	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:174032400-174048800	Weak transcription	Dnd41	blood
15	chr2:174037000-174047600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr2:174037000-174053000	Weak transcription	Right Atrium	heart
17	chr2:174037200-174048400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:174037400-174039600	Weak transcription	Fetal Heart	heart
19	chr2:174037400-174039800	Weak transcription	Stomach Mucosa	stomach
20	chr2:174037400-174047600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:174037400-174048800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:174037400-174048800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:174037400-174048800	Weak transcription	NHEK	skin
24	chr2:174037400-174054600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:174037600-174039600	Weak transcription	A549	lung
26	chr2:174037600-174039800	Weak transcription	Osteobl	bone
27	chr2:174037800-174046600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:174038200-174040000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:174038200-174049000	Weak transcription	Left Ventricle	heart

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