Variant report

Variant	rs7120934
Chromosome Location	chr11:34199849-34199850
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34197536..34200208-chr11:34383082..34386079,2	K562	blood:
2	chr11:34198458..34205212-chr11:34376041..34381079,14	MCF-7	breast:
3	chr11:34199620..34202889-chr11:34205068..34208989,4	K562	blood:

Variant related genes	Relation type
ENSG00000166016	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10768049	0.81[EUR][1000 genomes]
rs10836157	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11032535	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032537	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1321017	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1321018	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1321019	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1569774	0.81[CEU][hapmap];0.91[TSI][hapmap]
rs2143868	0.81[CHD][hapmap];0.85[JPT][hapmap]
rs2467375	0.81[ASN][1000 genomes]
rs2467383	0.92[CEU][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];0.80[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2473918	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2955934	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2955935	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2957492	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2982606	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2982607	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2982608	1.00[CHB][hapmap];0.94[CHD][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs34427038	0.89[ASN][1000 genomes]
rs59698692	0.98[ASN][1000 genomes]
rs7102200	0.89[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];0.87[LWK][hapmap];0.84[MEX][hapmap];0.80[MKK][hapmap];0.89[TSI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7121122	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7121208	0.84[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7121259	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124122	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937404	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950979	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs910256	0.93[JPT][hapmap]
rs910257	0.88[CHD][hapmap];0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523431	chr11:34192092-34199849	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv517429	chr11:34196484-34199849	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7120934	C11orf41	cis	parietal	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34192800-34203000	Weak transcription	Aorta	Aorta
2	chr11:34196200-34207600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:34196400-34203400	Weak transcription	Fetal Brain Male	brain
4	chr11:34196400-34206800	Weak transcription	Gastric	stomach
5	chr11:34196400-34207600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:34196600-34201400	Weak transcription	Colon Smooth Muscle	Colon
7	chr11:34196600-34201600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:34196600-34201800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:34196600-34201800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:34196600-34201800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:34196600-34203000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:34196600-34204400	Weak transcription	HSMM	muscle
13	chr11:34196600-34204800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:34196600-34205800	Weak transcription	Fetal Brain Female	brain
15	chr11:34196600-34206000	Weak transcription	Pancreas	Pancrea
16	chr11:34196600-34206200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:34196600-34207600	Weak transcription	Left Ventricle	heart
18	chr11:34196600-34210200	Weak transcription	HepG2	liver
19	chr11:34196600-34214000	Weak transcription	Stomach Mucosa	stomach
20	chr11:34196800-34200800	Weak transcription	Brain Angular Gyrus	brain
21	chr11:34196800-34201800	Weak transcription	Hela-S3	cervix
22	chr11:34196800-34203200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr11:34196800-34205000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:34196800-34206800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr11:34197000-34207400	Weak transcription	HSMMtube	muscle
26	chr11:34197400-34200800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:34197400-34203600	Weak transcription	Right Ventricle	heart
28	chr11:34197400-34204400	Enhancers	GM12878-XiMat	blood
29	chr11:34197400-34205000	Weak transcription	Liver	Liver
30	chr11:34197600-34201600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr11:34197800-34205200	Enhancers	Brain Hippocampus Middle	brain
32	chr11:34198000-34201800	Weak transcription	Fetal Thymus	thymus
33	chr11:34198000-34202200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:34198000-34203800	Enhancers	Brain Cingulate Gyrus	brain
35	chr11:34198000-34204000	Enhancers	Brain Anterior Caudate	brain
36	chr11:34198000-34204000	Enhancers	Brain Substantia Nigra	brain
37	chr11:34198200-34201800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr11:34198400-34201200	Weak transcription	HMEC	breast
39	chr11:34198600-34200200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr11:34198600-34207000	Weak transcription	NHEK	skin
41	chr11:34198800-34200800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:34198800-34200800	Weak transcription	Fetal Stomach	stomach
43	chr11:34198800-34201000	Weak transcription	Fetal Lung	lung
44	chr11:34198800-34201200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:34198800-34201800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:34198800-34207000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:34199000-34200800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:34199000-34201800	Weak transcription	Placenta	Placenta
49	chr11:34199200-34201000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:34199200-34201800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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