Variant report

Variant	rs7812418
Chromosome Location	chr8:103091385-103091386
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103089569..103092563-chr8:103094266..103096164,2	K562	blood:
2	chr8:103084929..103087953-chr8:103089291..103092188,3	MCF-7	breast:
3	chr8:103086669..103088305-chr8:103090497..103092888,2	K562	blood:
4	chr8:103089569..103093166-chr8:103094266..103096675,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11993879	1.00[EUR][1000 genomes]
rs16868986	1.00[EUR][1000 genomes]
rs16869053	1.00[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16869062	1.00[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16869081	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16869085	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16892348	1.00[EUR][1000 genomes]
rs2186683	0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs55888515	0.96[AFR][1000 genomes]
rs56338552	0.89[AFR][1000 genomes]
rs56403816	0.96[AFR][1000 genomes]
rs59624010	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59916025	1.00[EUR][1000 genomes]
rs61259105	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6995092	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6995106	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs7000691	1.00[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7014246	1.00[EUR][1000 genomes]
rs7014272	1.00[EUR][1000 genomes]
rs7815515	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7830150	0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs7830927	1.00[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103080600-103091400	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:103080800-103092800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:103083600-103091400	Weak transcription	Fetal Brain Female	brain
4	chr8:103084800-103092600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:103085000-103092400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:103086600-103092800	Weak transcription	Spleen	Spleen
7	chr8:103087200-103091400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:103087200-103092000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:103088800-103091600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:103090200-103091800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:103090800-103091400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr8:103090800-103091800	Enhancers	Ovary	ovary
13	chr8:103090800-103092200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:103090800-103093200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr8:103090800-103093800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:103091000-103091800	Enhancers	Aorta	Aorta
17	chr8:103091000-103093000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:103091000-103093200	Enhancers	Fetal Heart	heart
19	chr8:103091000-103096800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr8:103091200-103091800	Enhancers	Psoas Muscle	Psoas
21	chr8:103091200-103092400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr8:103091200-103092400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:103091200-103092400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:103091200-103092600	Enhancers	Right Ventricle	heart
25	chr8:103091200-103093000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:103091200-103093000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr8:103091200-103093200	Enhancers	Left Ventricle	heart

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