Variant report

Variant	rs11897681
Chromosome Location	chr2:174019477-174019478
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:174011042..174014620-chr2:174016771..174020819,3	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10181133	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182247	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10198981	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs10497401	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11249	0.85[CHB][hapmap]
rs11677913	0.91[YRI][hapmap]
rs11887008	0.85[CHB][hapmap]
rs13034748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13035366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13313780	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13385996	0.89[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13430550	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13430650	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1371573	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1439977	0.91[YRI][hapmap]
rs16861393	0.85[CHB][hapmap]
rs16861404	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1866634	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289396	0.87[YRI][hapmap]
rs2358087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3754740	0.93[ASN][1000 genomes]
rs3769165	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs3769174	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3769177	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4972399	0.85[CHB][hapmap]
rs4972535	0.83[CEU][hapmap];0.95[YRI][hapmap]
rs4972536	0.92[YRI][hapmap]
rs6734666	1.00[YRI][hapmap]
rs7566372	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv834461	chr2:173979734-174038471	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11897681	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174007800-174021000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:174007800-174021000	Weak transcription	Fetal Intestine Small	intestine
3	chr2:174008600-174020800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:174012800-174020000	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr2:174012800-174026600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr2:174013400-174025400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:174013600-174024600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:174014600-174021000	Weak transcription	Ovary	ovary
9	chr2:174015400-174027400	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:174015400-174047000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:174016200-174048800	Weak transcription	K562	blood
12	chr2:174016400-174028200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:174016800-174020600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:174017000-174022400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:174017000-174022600	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:174017200-174023800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr2:174017200-174024000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:174017200-174024200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:174018000-174021800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:174018000-174024200	Weak transcription	Fetal Heart	heart
21	chr2:174018000-174025400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:174018400-174019800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:174018400-174020000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:174018400-174020200	Weak transcription	HMEC	breast
25	chr2:174018400-174020800	Weak transcription	A549	lung
26	chr2:174018400-174022400	Weak transcription	Hela-S3	cervix
27	chr2:174018400-174022600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:174018400-174024000	Weak transcription	Osteobl	bone
29	chr2:174018400-174024200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr2:174018600-174022200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:174018600-174022400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:174018600-174022400	Weak transcription	NHDF-Ad	bronchial
33	chr2:174018600-174023800	Weak transcription	NHLF	lung
34	chr2:174018600-174024200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:174018800-174020600	Weak transcription	NHEK	skin
36	chr2:174019000-174020200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:174019000-174021000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:174019000-174021200	Weak transcription	Left Ventricle	heart
39	chr2:174019000-174021200	Weak transcription	Psoas Muscle	Psoas
40	chr2:174019400-174021200	Weak transcription	Right Ventricle	heart

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