Variant report

Variant	rs7830150
Chromosome Location	chr8:103093093-103093094
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	chr8:103092184..103094951-chr8:103097737..103099786,2	MCF-7	breast:
2	chr8:103089569..103093166-chr8:103094266..103096675,3	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11777456	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs16868988	0.92[CHB][hapmap];0.83[ASN][1000 genomes]
rs16869047	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs16869053	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs16869054	0.85[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap]
rs16869057	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869062	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs16869064	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs16869074	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16869080	0.92[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs16869081	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs16869085	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2186683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55694001	0.99[ASN][1000 genomes]
rs55888515	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs55968485	0.99[ASN][1000 genomes]
rs55978100	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56054038	0.93[ASN][1000 genomes]
rs56338552	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56403816	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs59050929	0.99[ASN][1000 genomes]
rs59624010	0.92[AFR][1000 genomes]
rs61259105	0.87[AFR][1000 genomes]
rs6982688	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs6995092	0.81[AFR][1000 genomes]
rs6995106	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7000691	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7002572	0.96[ASN][1000 genomes]
rs72507592	0.99[ASN][1000 genomes]
rs7812418	0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs7815515	1.00[ASW][hapmap];0.97[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs7830927	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9642976	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv891232	chr8:103001914-103138045	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv891233	chr8:103001914-103162638	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv891234	chr8:103020391-103113701	Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv891235	chr8:103032394-103162638	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv891237	chr8:103039917-103113701	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv891238	chr8:103055520-103116959	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv891239	chr8:103056517-103162638	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv891240	chr8:103070301-103162638	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	esv2754264	chr8:103070824-103170824	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
11	nsv891241	chr8:103079505-103162638	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7830150	RNF19A	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103090800-103093200	Enhancers	H1 Cell Line	embryonic stem cell
2	chr8:103090800-103093800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:103091000-103093200	Enhancers	Fetal Heart	heart
4	chr8:103091000-103096800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr8:103091200-103093200	Enhancers	Left Ventricle	heart
6	chr8:103091400-103093200	Enhancers	Fetal Muscle Leg	muscle
7	chr8:103091400-103093400	Enhancers	Fetal Brain Female	brain
8	chr8:103091400-103094000	Enhancers	Stomach Smooth Muscle	stomach
9	chr8:103091600-103094600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:103091800-103093800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:103091800-103095200	Enhancers	Colon Smooth Muscle	Colon
12	chr8:103091800-103096600	Weak transcription	Ovary	ovary
13	chr8:103092000-103094200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:103092200-103095000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:103092400-103093200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr8:103092400-103093200	Enhancers	Right Atrium	heart
17	chr8:103092400-103093600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr8:103092400-103093600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr8:103092400-103093600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr8:103092600-103093200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:103092600-103093200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:103092600-103096600	Weak transcription	Right Ventricle	heart
23	chr8:103092800-103093200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr8:103092800-103093200	Enhancers	Rectal Smooth Muscle	rectum
25	chr8:103092800-103093200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr8:103092800-103098800	Weak transcription	Aorta	Aorta
27	chr8:103093000-103093400	Enhancers	Psoas Muscle	Psoas
28	chr8:103093000-103096800	Weak transcription	Spleen	Spleen

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