Variant report

Variant	rs36174
Chromosome Location	chr3:134650463-134650464
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs187587	0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs36160	0.80[AMR][1000 genomes]
rs36161	1.00[MEX][hapmap];0.80[AMR][1000 genomes]
rs36167	1.00[MEX][hapmap]
rs36172	0.95[CHB][hapmap];0.98[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs36175	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36176	0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs36177	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs36178	0.91[JPT][hapmap];0.90[MEX][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs36179	0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs36180	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs36182	0.81[MEX][hapmap]
rs36184	0.81[MEX][hapmap]
rs39701	0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs39702	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs39703	0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs39704	0.80[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs40157	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs40437	0.95[CHB][hapmap];0.98[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs40438	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs42883	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs43208	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs504033	0.81[AMR][1000 genomes]
rs6788931	0.91[TSI][hapmap]
rs680054	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7650345	0.91[TSI][hapmap]
rs9876803	0.82[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	nsv1009634	chr3:134543259-134820208	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv536720	chr3:134543259-134820208	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1000277	chr3:134546080-134970837	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs36174	EPHB1	cis	lymphoblastoid	seeQTL
rs36174	CRYAA	trans	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134639400-134653800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr3:134642400-134653800	Weak transcription	Brain Germinal Matrix	brain
3	chr3:134644200-134654800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:134644600-134656400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:134649000-134656200	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:134649000-134656200	Weak transcription	Fetal Stomach	stomach
7	chr3:134649200-134650600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:134649200-134650600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:134649200-134650800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr3:134649200-134651600	Enhancers	Rectal Smooth Muscle	rectum
11	chr3:134649200-134652400	Enhancers	Colon Smooth Muscle	Colon
12	chr3:134649400-134650600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr3:134649400-134650600	Enhancers	GM12878-XiMat	blood
14	chr3:134649400-134650800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
15	chr3:134649600-134650600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:134649600-134651000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:134649600-134651200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr3:134649800-134650600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr3:134649800-134653400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:134650000-134650600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr3:134650000-134651800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:134650200-134653200	Weak transcription	Brain Anterior Caudate	brain
23	chr3:134650400-134650600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr3:134650400-134650600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:134650400-134650800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr3:134650400-134651200	Enhancers	Fetal Brain Male	brain
27	chr3:134650400-134651800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr3:134650400-134656000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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