Variant report

Variant	rs604694
Chromosome Location	chr11:75324180-75324181
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75324179..75326709-chr11:75339433..75341583,3	K562	blood:
2	chr11:75318249..75321845-chr11:75322154..75325237,3	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1145696	0.81[CEU][hapmap];0.92[JPT][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1234668	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2508193	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4944086	0.82[TSI][hapmap]
rs541993	0.91[CEU][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs544698	0.91[EUR][1000 genomes]
rs546156	0.85[ASW][hapmap];0.91[CEU][hapmap];0.85[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs590550	0.82[TSI][hapmap]
rs641976	0.87[EUR][1000 genomes]
rs652452	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs654949	0.85[JPT][hapmap];0.82[YRI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs656007	0.85[ASW][hapmap];0.81[CEU][hapmap];0.85[JPT][hapmap];0.86[LWK][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs657639	0.92[JPT][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs660343	0.81[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs663515	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs668378	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs687793	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7110142	0.82[TSI][hapmap]
rs7114999	0.82[TSI][hapmap]
rs7128846	0.85[JPT][hapmap];0.91[YRI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7947980	0.82[TSI][hapmap]

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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs604694	RAB6A	cis	cerebellum	SCAN
rs604694	KCTD21	cis	parietal	SCAN
rs604694	RELT	cis	cerebellum	SCAN
rs604694	NUMA1	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75295400-75329600	Weak transcription	Aorta	Aorta
2	chr11:75305000-75328800	Weak transcription	Pancreas	Pancrea
3	chr11:75305800-75346200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:75306000-75326200	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:75306000-75326200	Weak transcription	Brain Substantia Nigra	brain
6	chr11:75306600-75324200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:75310200-75329800	Weak transcription	Fetal Intestine Small	intestine
8	chr11:75313800-75326000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:75314000-75328000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:75315200-75324400	Weak transcription	Right Ventricle	heart
11	chr11:75316000-75326200	Weak transcription	Fetal Brain Male	brain
12	chr11:75317600-75346200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:75318000-75326000	Weak transcription	Brain Germinal Matrix	brain
14	chr11:75318400-75326400	Weak transcription	Brain Angular Gyrus	brain
15	chr11:75319200-75325000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr11:75319200-75326000	Weak transcription	Fetal Muscle Leg	muscle
17	chr11:75319400-75324400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:75319600-75324400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:75319600-75324400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr11:75319600-75329600	Weak transcription	Fetal Stomach	stomach
21	chr11:75320200-75324200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:75320800-75326000	Weak transcription	Fetal Lung	lung
23	chr11:75322200-75326200	Weak transcription	Brain Anterior Caudate	brain
24	chr11:75322200-75326200	Weak transcription	Fetal Brain Female	brain
25	chr11:75322200-75327600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:75323200-75324800	Enhancers	Fetal Heart	heart
27	chr11:75323400-75337200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:75323600-75324600	Enhancers	Spleen	Spleen
29	chr11:75323600-75324600	Enhancers	HUVEC	blood vessel
30	chr11:75324000-75324400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:75324000-75324400	Enhancers	K562	blood
32	chr11:75324000-75324600	Enhancers	Fetal Muscle Trunk	muscle
33	chr11:75324000-75324600	Enhancers	Right Atrium	heart
34	chr11:75324000-75325400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:75324000-75325400	Enhancers	Lung	lung

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