Variant report

Variant	rs12335330
Chromosome Location	chr8:103415267-103415268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103354174..103356522-chr8:103413215..103415897,2	MCF-7	breast:
2	chr8:103395695..103397500-chr8:103414019..103415876,3	MCF-7	breast:
3	chr8:103414964..103417747-chr8:103817201..103820988,4	MCF-7	breast:
4	chr8:103398631..103401348-chr8:103413426..103415820,2	MCF-7	breast:
5	chr8:103412551..103414334-chr8:103414528..103416679,2	MCF-7	breast:
6	chr8:103404586..103407387-chr8:103414307..103417214,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253669	Chromatin interaction
ENSG00000238533	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10091086	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10094942	0.83[ASN][1000 genomes]
rs10102559	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10103923	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10108510	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108699	1.00[JPT][hapmap]
rs10481101	1.00[JPT][hapmap]
rs12114813	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707772	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap]
rs13258207	1.00[JPT][hapmap]
rs28368586	1.00[ASN][1000 genomes]
rs28491719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28658545	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28789744	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2925784	1.00[JPT][hapmap]
rs2925785	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2925791	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2978424	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2978425	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2978426	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs3018532	1.00[CEU][hapmap]
rs3018533	1.00[CEU][hapmap]
rs3018536	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3018539	1.00[CEU][hapmap]
rs3018540	1.00[ASN][1000 genomes]
rs3018541	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3018542	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
6	nsv1023938	chr8:103369215-103538708	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103369800-103421000	Weak transcription	Colonic Mucosa	Colon
2	chr8:103384200-103416800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:103388400-103416600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:103395800-103420800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:103395800-103422200	Weak transcription	HSMMtube	muscle
6	chr8:103397400-103420800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:103398600-103420800	Weak transcription	Esophagus	oesophagus
8	chr8:103403400-103416800	Weak transcription	Placenta	Placenta
9	chr8:103403400-103420000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:103403400-103423000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:103404400-103416200	Weak transcription	NHLF	lung
12	chr8:103405000-103416000	Weak transcription	NHDF-Ad	bronchial
13	chr8:103407000-103417000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:103407600-103415400	Weak transcription	Aorta	Aorta
15	chr8:103407600-103421000	Weak transcription	Spleen	Spleen
16	chr8:103408400-103421000	Weak transcription	Thymus	Thymus
17	chr8:103408400-103422400	Weak transcription	Small Intestine	intestine
18	chr8:103408600-103416000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr8:103408600-103416200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:103408600-103417600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:103408800-103415400	Weak transcription	Ovary	ovary
22	chr8:103408800-103415600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr8:103408800-103422000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr8:103409200-103416800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:103409600-103416400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr8:103410000-103415800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:103410000-103420200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr8:103410600-103422400	Weak transcription	Fetal Kidney	kidney
29	chr8:103410800-103415400	Weak transcription	Brain Germinal Matrix	brain
30	chr8:103410800-103422800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr8:103411000-103417800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:103411000-103420800	Weak transcription	Fetal Stomach	stomach
33	chr8:103411400-103417400	Weak transcription	HSMM	muscle
34	chr8:103412000-103420800	Weak transcription	Fetal Muscle Leg	muscle
35	chr8:103412400-103415600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:103412400-103416400	Strong transcription	Dnd41	blood
37	chr8:103412400-103417600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:103412600-103417600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr8:103412800-103416400	Enhancers	Brain Anterior Caudate	brain
40	chr8:103412800-103416800	Weak transcription	Fetal Thymus	thymus
41	chr8:103412800-103416800	Weak transcription	Pancreas	Pancrea
42	chr8:103412800-103423200	Weak transcription	Lung	lung
43	chr8:103413000-103417000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:103413200-103422000	Weak transcription	Fetal Intestine Large	intestine
45	chr8:103413400-103415400	Enhancers	Fetal Brain Female	brain
46	chr8:103413400-103415400	Weak transcription	Fetal Intestine Small	intestine
47	chr8:103413400-103416200	Enhancers	Psoas Muscle	Psoas
48	chr8:103413600-103415400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:103413600-103415800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:103413600-103415800	Enhancers	Left Ventricle	heart

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