Variant report

Variant	rs17010538
Chromosome Location	chr12:83437183-83437184
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:83435873..83438111-chr12:83445616..83447681,2	K562	blood:
2	chr12:83436175..83438871-chr14:91881648..91884275,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000015133	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10506888	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11115559	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs11829960	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11832231	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11832789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11834840	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12315590	0.82[EUR][1000 genomes]
rs17010563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17010565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17010567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17010576	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17010577	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17010578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17010580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17010586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2033576	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7304787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv559557	chr12:83334204-83453620	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	nsv1047239	chr12:83362299-83444855	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83419000-83468000	Weak transcription	Fetal Stomach	stomach
2	chr12:83423600-83446200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:83423600-83448800	Weak transcription	Brain Substantia Nigra	brain
4	chr12:83425400-83440600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:83428400-83439800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:83428600-83443000	Weak transcription	Fetal Lung	lung
7	chr12:83434400-83440400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr12:83434400-83452200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:83435000-83437400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:83435000-83437400	Enhancers	Rectal Smooth Muscle	rectum
11	chr12:83435200-83438200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:83435600-83437200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:83435600-83437400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:83435600-83437600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:83435800-83437200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr12:83435800-83437600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:83435800-83437800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr12:83436000-83437200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:83436200-83437200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:83436200-83437200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr12:83436200-83437200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:83436200-83437200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr12:83436200-83437200	Enhancers	NHDF-Ad	bronchial
24	chr12:83436200-83437400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:83436200-83437400	Enhancers	HSMMtube	muscle
26	chr12:83436200-83437600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr12:83436400-83437200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr12:83436400-83437200	Enhancers	HSMM	muscle
29	chr12:83436400-83437400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr12:83436400-83437400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:83436600-83437200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr12:83436600-83437200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:83436600-83439400	Weak transcription	Fetal Brain Male	brain
34	chr12:83436600-83452400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:83436800-83437200	Enhancers	Colon Smooth Muscle	Colon
36	chr12:83436800-83439600	Weak transcription	Fetal Muscle Leg	muscle
37	chr12:83436800-83467800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:83437000-83443000	Weak transcription	Brain Hippocampus Middle	brain

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