Variant report

Variant	rs7730689
Chromosome Location	chr5:16532973-16532974
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	chr5:16529119..16532127-chr5:16532204..16536269,4	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10035580	0.95[CHB][hapmap];0.95[CHD][hapmap];0.92[ASN][1000 genomes]
rs10041159	0.95[CHB][hapmap];0.93[CHD][hapmap];0.84[JPT][hapmap];0.92[ASN][1000 genomes]
rs10053746	0.87[CHB][hapmap];0.84[JPT][hapmap]
rs10073468	0.99[ASN][1000 genomes]
rs10454940	0.83[CHB][hapmap];0.84[CHD][hapmap];0.84[JPT][hapmap]
rs12187057	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12187879	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1551050	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17706853	0.90[CEU][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2028843	0.95[CEU][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2162770	0.93[ASN][1000 genomes]
rs2560828	0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[ASN][1000 genomes]
rs56379171	0.99[ASN][1000 genomes]
rs6860945	1.00[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs6862083	0.95[CHB][hapmap];0.95[CHD][hapmap];0.84[JPT][hapmap];0.94[ASN][1000 genomes]
rs6882868	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6886993	0.95[CHB][hapmap];0.95[CHD][hapmap];0.84[JPT][hapmap];0.94[ASN][1000 genomes]
rs7705650	0.97[ASN][1000 genomes]
rs9312921	0.97[ASN][1000 genomes]
rs9312922	1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][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	nsv881187	chr5:16514269-16654960	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	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
rs7730689	FAM134B	cis	cerebellum	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16516000-16540800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:16521600-16539600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:16522400-16567400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:16523400-16540800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:16523600-16533800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr5:16523600-16535400	Weak transcription	Pancreas	Pancrea
7	chr5:16523800-16539000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:16523800-16540800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr5:16524600-16533800	Weak transcription	Right Ventricle	heart
10	chr5:16525000-16540800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr5:16525000-16542000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr5:16525200-16540400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr5:16525600-16539200	Weak transcription	Gastric	stomach
14	chr5:16526400-16537400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr5:16527200-16533800	Weak transcription	Primary T cells from cord blood	blood
16	chr5:16527200-16534400	Weak transcription	Thymus	Thymus
17	chr5:16529000-16537000	Weak transcription	Fetal Brain Male	brain
18	chr5:16529000-16538000	Weak transcription	Fetal Brain Female	brain
19	chr5:16530400-16535400	Weak transcription	Right Atrium	heart
20	chr5:16530600-16535400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr5:16531800-16536400	Weak transcription	Brain Anterior Caudate	brain
22	chr5:16532000-16534200	Weak transcription	Psoas Muscle	Psoas
23	chr5:16532000-16534400	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:16532000-16534400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:16532000-16535400	Weak transcription	Brain Hippocampus Middle	brain
26	chr5:16532000-16535600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:16532000-16538000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr5:16532000-16538200	Weak transcription	Colonic Mucosa	Colon
29	chr5:16532000-16538200	Weak transcription	Fetal Intestine Large	intestine
30	chr5:16532200-16533800	Weak transcription	Left Ventricle	heart
31	chr5:16532200-16534400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr5:16532200-16535400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr5:16532200-16535400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr5:16532200-16535400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr5:16532200-16535600	Weak transcription	Brain Angular Gyrus	brain
36	chr5:16532200-16536200	Weak transcription	Brain Substantia Nigra	brain
37	chr5:16532200-16536200	Weak transcription	Fetal Intestine Small	intestine
38	chr5:16532200-16538400	Weak transcription	Small Intestine	intestine
39	chr5:16532200-16542000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr5:16532400-16536000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr5:16532800-16533200	Weak transcription	Fetal Heart	heart

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