Variant report

Variant	rs1368907
Chromosome Location	chr2:179215801-179215802
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	chr2:179211896..179213894-chr2:179215385..179216984,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10497513	0.83[CEU][hapmap];0.91[GIH][hapmap];0.83[LWK][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes]
rs10497514	0.92[EUR][1000 genomes]
rs10930829	0.83[CEU][hapmap];0.92[EUR][1000 genomes]
rs12471986	1.00[CHB][hapmap]
rs1368903	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1368905	0.92[EUR][1000 genomes]
rs1434081	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1434084	0.80[GIH][hapmap]
rs1434089	0.83[CEU][hapmap];0.91[EUR][1000 genomes]
rs16866260	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16866263	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16866274	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16866276	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1812550	0.83[CEU][hapmap];0.91[GIH][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes]
rs1821412	1.00[ASN][1000 genomes]
rs1836203	0.90[EUR][1000 genomes]
rs1836205	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2366164	1.00[ASN][1000 genomes]
rs334595	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs334596	1.00[CHB][hapmap]
rs334597	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs334601	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs334605	1.00[JPT][hapmap]
rs334607	1.00[CHB][hapmap]
rs334609	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs334619	1.00[JPT][hapmap]
rs35032920	1.00[ASN][1000 genomes]
rs3813253	0.83[CEU][hapmap];0.89[EUR][1000 genomes]
rs4422196	0.89[EUR][1000 genomes]
rs4894007	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4894014	0.92[EUR][1000 genomes]
rs55633450	1.00[ASN][1000 genomes]
rs55981329	1.00[ASN][1000 genomes]
rs55989867	0.89[EUR][1000 genomes]
rs56366027	0.89[EUR][1000 genomes]
rs6433718	1.00[CHB][hapmap]
rs6433719	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6433722	0.83[CEU][hapmap];0.91[GIH][hapmap];0.83[LWK][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs6725937	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6753246	0.83[CEU][hapmap];0.91[GIH][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes]
rs6754517	0.83[CEU][hapmap];0.92[EUR][1000 genomes]
rs6761421	0.83[CEU][hapmap];0.91[EUR][1000 genomes]
rs731845	1.00[ASN][1000 genomes]
rs7559699	0.92[EUR][1000 genomes]
rs7559711	0.88[EUR][1000 genomes]
rs7572355	0.92[EUR][1000 genomes]
rs7585689	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs964165	0.87[CEU][hapmap];0.83[YRI][hapmap];0.96[AFR][1000 genomes];0.91[EUR][1000 genomes]

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	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1368907	FKBP7	cis	cerebellum	SCAN
rs1368907	HOXD4	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179183800-179247800	Weak transcription	Psoas Muscle	Psoas
2	chr2:179189800-179217000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:179193200-179216200	Weak transcription	Adipose Nuclei	Adipose
4	chr2:179194600-179229400	Weak transcription	K562	blood
5	chr2:179195400-179229000	Weak transcription	Brain Substantia Nigra	brain
6	chr2:179198400-179227400	Weak transcription	NHEK	skin
7	chr2:179199000-179241200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:179199600-179240400	Weak transcription	Fetal Stomach	stomach
9	chr2:179201600-179218400	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:179201800-179216000	Weak transcription	Right Ventricle	heart
11	chr2:179201800-179216800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:179201800-179217000	Weak transcription	Aorta	Aorta
13	chr2:179201800-179240000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:179201800-179240400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:179201800-179240400	Weak transcription	HSMMtube	muscle
16	chr2:179201800-179253600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:179201800-179268200	Weak transcription	HSMM	muscle
18	chr2:179202000-179216400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:179202400-179216400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:179202400-179216400	Weak transcription	Ovary	ovary
21	chr2:179202400-179227400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:179202400-179230600	Weak transcription	Fetal Brain Male	brain
23	chr2:179202400-179248000	Weak transcription	NH-A	brain
24	chr2:179206800-179218600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:179207800-179217000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:179209000-179220800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:179209200-179253000	Weak transcription	Esophagus	oesophagus
28	chr2:179209600-179227200	Weak transcription	HMEC	breast
29	chr2:179210800-179257200	Weak transcription	Pancreas	Pancrea
30	chr2:179213200-179229400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:179213400-179216600	Strong transcription	Liver	Liver
32	chr2:179213800-179217600	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:179214000-179217000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:179214600-179218200	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr2:179214800-179216200	Strong transcription	Brain Germinal Matrix	brain
36	chr2:179214800-179220200	Weak transcription	Brain Angular Gyrus	brain
37	chr2:179215000-179218200	Weak transcription	Fetal Brain Female	brain
38	chr2:179215000-179218800	Weak transcription	Left Ventricle	heart
39	chr2:179215200-179218600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:179215200-179248800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:179215400-179216800	Weak transcription	HepG2	liver
42	chr2:179215600-179216600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:179215600-179239800	Weak transcription	Brain Anterior Caudate	brain

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