Variant report

Variant	rs7069574
Chromosome Location	chr10:97315349-97315350
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	chr10:97315253..97317391-chr10:97320414..97322052,2	K562	blood:
2	chr10:97314309..97316972-chr10:97319111..97320746,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000095637	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10786221	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10786222	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];0.94[MEX][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10882614	0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs10882615	0.80[ASW][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.82[MEX][hapmap];0.92[ASN][1000 genomes]
rs10882616	0.91[CHB][hapmap];0.92[ASN][1000 genomes]
rs10882617	0.84[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10882618	0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10882619	0.83[GIH][hapmap];0.86[LWK][hapmap];0.96[YRI][hapmap]
rs11188355	0.87[ASN][1000 genomes]
rs11188357	0.84[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12219483	0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.92[ASN][1000 genomes]
rs12411861	1.00[JPT][hapmap]
rs1536444	0.81[CHB][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs1536445	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61870046	0.85[ASN][1000 genomes]
rs61870048	0.92[ASN][1000 genomes]
rs61870049	0.92[ASN][1000 genomes]
rs61870050	0.90[ASN][1000 genomes]
rs61870051	0.92[ASN][1000 genomes]
rs61870052	0.92[ASN][1000 genomes]

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	esv1808679	chr10:97266478-97316855	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv552022	chr10:97308114-97328227	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7069574	EXOSC1	cis	cerebellum	SCAN
rs7069574	ATP6V1G1	trans	parietal	SCAN
rs7069574	CYP2C8	cis	parietal	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97305200-97318600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr10:97305200-97319000	Weak transcription	HSMM	muscle
3	chr10:97308000-97318600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:97310400-97318400	Weak transcription	Fetal Kidney	kidney
5	chr10:97310800-97316800	Weak transcription	Ovary	ovary
6	chr10:97310800-97317800	Weak transcription	Pancreas	Pancrea
7	chr10:97311000-97316800	Weak transcription	Gastric	stomach
8	chr10:97311000-97318600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:97311200-97317000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr10:97311400-97315400	Weak transcription	Right Ventricle	heart
11	chr10:97311400-97315600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr10:97311400-97316800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr10:97311400-97316800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr10:97311400-97316800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr10:97311400-97317000	Weak transcription	Brain Angular Gyrus	brain
16	chr10:97311400-97317200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr10:97311400-97318400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr10:97311600-97315400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr10:97311600-97317400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr10:97312600-97317000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr10:97313000-97316800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr10:97313000-97316800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr10:97313000-97317200	Weak transcription	Spleen	Spleen
24	chr10:97313000-97318600	Weak transcription	Stomach Mucosa	stomach
25	chr10:97313400-97316800	Weak transcription	Fetal Brain Female	brain
26	chr10:97313400-97316800	Weak transcription	Fetal Muscle Leg	muscle
27	chr10:97313400-97317800	Weak transcription	Lung	lung
28	chr10:97313400-97318200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr10:97313600-97317000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr10:97313800-97316800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr10:97313800-97316800	Weak transcription	K562	blood
32	chr10:97313800-97317200	Weak transcription	Fetal Intestine Small	intestine
33	chr10:97313800-97318400	Weak transcription	Placenta	Placenta
34	chr10:97314000-97317600	Weak transcription	Fetal Stomach	stomach
35	chr10:97314600-97315600	Enhancers	Fetal Brain Male	brain
36	chr10:97314800-97315400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr10:97314800-97315800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr10:97314800-97316000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr10:97314800-97318200	Enhancers	Left Ventricle	heart
40	chr10:97315000-97315600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr10:97315000-97315600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
42	chr10:97315000-97315800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr10:97315000-97315800	Enhancers	Brain Cingulate Gyrus	brain
44	chr10:97315000-97316000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr10:97315000-97316000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr10:97315000-97316000	Enhancers	Brain Hippocampus Middle	brain
47	chr10:97315000-97316000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr10:97315000-97316000	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr10:97315000-97316000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr10:97315000-97316200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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