Variant report

Variant	rs6734666
Chromosome Location	chr2:174054175-174054176
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10173050	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10181133	0.96[YRI][hapmap]
rs10185321	0.96[ASN][1000 genomes]
rs10187560	0.85[JPT][hapmap]
rs10198810	0.95[ASN][1000 genomes]
rs10198981	1.00[YRI][hapmap]
rs11677913	1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[YRI][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11897681	1.00[YRI][hapmap]
rs12693017	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12693019	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13034748	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs13385996	1.00[YRI][hapmap]
rs1439977	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[YRI][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1866632	0.93[ASN][1000 genomes]
rs1866633	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1866634	0.96[YRI][hapmap]
rs2289396	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[YRI][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2289398	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2358087	1.00[YRI][hapmap]
rs2358088	0.83[EUR][1000 genomes]
rs3769165	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs3769174	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs3769177	1.00[YRI][hapmap]
rs4972535	0.95[YRI][hapmap]
rs4972536	1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7599340	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6734666	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174026000-174069000	Weak transcription	Primary B cells from cord blood	blood
2	chr2:174026600-174083200	Weak transcription	Esophagus	oesophagus
3	chr2:174028400-174054600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:174037400-174054600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:174046200-174054200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:174046200-174054400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:174046200-174055800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:174046400-174075800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:174046600-174055800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:174047000-174062800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:174047600-174056400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:174047600-174060800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:174047600-174062800	Weak transcription	GM12878-XiMat	blood
14	chr2:174047800-174065800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:174048600-174095200	Weak transcription	Thymus	Thymus
16	chr2:174049000-174070600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:174049200-174070200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:174049200-174083200	Weak transcription	Small Intestine	intestine
19	chr2:174049400-174054200	Weak transcription	Fetal Intestine Large	intestine
20	chr2:174049400-174054800	Weak transcription	Dnd41	blood
21	chr2:174049400-174055800	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:174049400-174056000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:174049400-174058400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:174049400-174060600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:174049400-174060800	Weak transcription	Lung	lung
26	chr2:174049400-174060800	Weak transcription	Right Ventricle	heart
27	chr2:174049400-174078200	Weak transcription	HUVEC	blood vessel
28	chr2:174049600-174056000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:174049600-174056200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:174049600-174062800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:174049600-174074400	Weak transcription	Fetal Stomach	stomach
32	chr2:174049600-174079800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:174049800-174062600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:174050000-174054600	Weak transcription	Psoas Muscle	Psoas
35	chr2:174050200-174062800	Weak transcription	HepG2	liver
36	chr2:174051000-174054600	Weak transcription	Fetal Thymus	thymus
37	chr2:174051600-174065200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr2:174052000-174056200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr2:174052000-174059600	Weak transcription	Aorta	Aorta
40	chr2:174052000-174063000	Weak transcription	Placenta	Placenta
41	chr2:174052200-174056000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:174052200-174056000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr2:174052400-174055800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:174052400-174056200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:174052800-174058600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr2:174052800-174063200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr2:174053000-174056400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:174053000-174057400	Strong transcription	Hela-S3	cervix
49	chr2:174053000-174065400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:174053200-174054600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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