Variant report

Variant	rs544997
Chromosome Location	chr11:75320479-75320480
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75307676..75310084-chr11:75318622..75321898,3	MCF-7	breast:
2	chr11:75318925..75322837-chr11:75335237..75336963,3	K562	blood:
3	chr11:75320436..75322582-chr11:75325180..75328802,3	K562	blood:
4	chr11:75318249..75321845-chr11:75322154..75325237,3	MCF-7	breast:
5	chr11:75318997..75321031-chr11:75326821..75329463,2	K562	blood:
6	chr11:75307708..75310392-chr11:75318661..75320948,2	K562	blood:
7	chr11:75306773..75310392-chr11:75318661..75320974,3	K562	blood:

Variant related genes	Relation type
ENSG00000255434	Chromatin interaction
ENSG00000171533	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs2015782	0.95[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2511005	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs570559	0.84[EUR][1000 genomes]
rs581522	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs584046	0.90[CEU][hapmap];0.94[CHB][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs585433	0.87[JPT][hapmap]
rs588955	0.87[JPT][hapmap]
rs589063	0.87[JPT][hapmap]
rs599816	0.87[JPT][hapmap]
rs601142	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs601293	0.90[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes]
rs609131	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs611221	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs617449	0.86[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs629176	0.87[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs636418	0.87[JPT][hapmap]
rs640277	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs642002	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs644388	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs648930	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs652524	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs664133	0.90[CEU][hapmap];0.94[CHB][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs678320	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs678874	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs683195	0.86[CEU][hapmap];0.94[CHB][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs684644	0.86[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.85[EUR][1000 genomes]
rs694844	0.80[JPT][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
rs544997	C11orf30	cis	parietal	SCAN
rs544997	PGM2L1	cis	parietal	SCAN
rs544997	SLCO2B1	cis	cerebellum	SCAN
rs544997	CTD-2530H12.4	cis	Artery Tibial	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75295400-75329600	Weak transcription	Aorta	Aorta
2	chr11:75296600-75321000	Weak transcription	Ovary	ovary
3	chr11:75305000-75328800	Weak transcription	Pancreas	Pancrea
4	chr11:75305800-75346200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr11:75306000-75326200	Weak transcription	Brain Hippocampus Middle	brain
6	chr11:75306000-75326200	Weak transcription	Brain Substantia Nigra	brain
7	chr11:75306400-75323600	Weak transcription	Spleen	Spleen
8	chr11:75306600-75324200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:75309200-75320800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:75310200-75329800	Weak transcription	Fetal Intestine Small	intestine
11	chr11:75311600-75324000	Weak transcription	Right Atrium	heart
12	chr11:75313800-75326000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:75314000-75328000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:75315200-75324400	Weak transcription	Right Ventricle	heart
15	chr11:75316000-75326200	Weak transcription	Fetal Brain Male	brain
16	chr11:75317600-75324000	Weak transcription	Lung	lung
17	chr11:75317600-75346200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:75318000-75326000	Weak transcription	Brain Germinal Matrix	brain
19	chr11:75318400-75326400	Weak transcription	Brain Angular Gyrus	brain
20	chr11:75319200-75321400	Weak transcription	Brain Anterior Caudate	brain
21	chr11:75319200-75325000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr11:75319200-75326000	Weak transcription	Fetal Muscle Leg	muscle
23	chr11:75319400-75321600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:75319400-75324400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:75319600-75320800	Enhancers	Fetal Lung	lung
26	chr11:75319600-75321400	Weak transcription	Fetal Brain Female	brain
27	chr11:75319600-75324400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:75319600-75324400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr11:75319600-75329600	Weak transcription	Fetal Stomach	stomach
30	chr11:75320000-75320800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:75320200-75324200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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