Variant report

Variant	rs10198981
Chromosome Location	chr2:174043104-174043105
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:174042344..174044769-chr2:174046655..174049116,2	K562	blood:
2	chr2:174034052..174036635-chr2:174040991..174043810,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10181133	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap]
rs10182247	1.00[CHB][hapmap]
rs10497401	1.00[CHB][hapmap]
rs11249	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11677913	0.91[YRI][hapmap]
rs11887008	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11897681	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs13034748	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13035366	0.94[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13313780	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13385996	0.84[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs13430550	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13430650	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1371573	1.00[CHB][hapmap]
rs1439977	0.91[YRI][hapmap]
rs16861393	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs16861404	1.00[CHB][hapmap]
rs1866634	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.81[EUR][1000 genomes]
rs2289396	0.87[YRI][hapmap]
rs2358087	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2358089	0.90[ASN][1000 genomes]
rs3769165	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3769174	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3769177	0.94[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4972399	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4972535	0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4972536	0.91[YRI][hapmap]
rs6734666	1.00[YRI][hapmap]
rs7566372	0.81[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10198981	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 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	chr2:174026200-174045000	Weak transcription	Fetal Intestine Small	intestine
5	chr2:174026400-174047600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:174026600-174048800	Weak transcription	Liver	Liver
7	chr2:174026600-174083200	Weak transcription	Esophagus	oesophagus
8	chr2:174028200-174044200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:174028400-174054600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:174030000-174052200	Weak transcription	Fetal Lung	lung
11	chr2:174031200-174046600	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:174032400-174048800	Weak transcription	Dnd41	blood
13	chr2:174037000-174047600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:174037000-174053000	Weak transcription	Right Atrium	heart
15	chr2:174037200-174048400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:174037400-174047600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:174037400-174048800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:174037400-174048800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:174037400-174048800	Weak transcription	NHEK	skin
20	chr2:174037400-174054600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:174037800-174046600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:174038200-174049000	Weak transcription	Left Ventricle	heart
23	chr2:174040400-174046800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:174040600-174045800	Weak transcription	A549	lung

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