Variant report

Variant	rs10030396
Chromosome Location	chr4:99464977-99464978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99459317..99461488-chr4:99464335..99467316,2	K562	blood:
2	chr4:99460334..99463092-chr4:99464059..99466192,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10000857	1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10001528	0.90[EUR][1000 genomes]
rs10005706	1.00[CEU][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes]
rs10007752	1.00[CEU][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10010485	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10029528	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs10031904	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10032578	1.00[CEU][hapmap]
rs17027682	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027707	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17027758	1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes]
rs17027760	1.00[CEU][hapmap]
rs17027826	1.00[CEU][hapmap]
rs17027841	1.00[CEU][hapmap]
rs17027845	1.00[CEU][hapmap]
rs17027851	1.00[CEU][hapmap]
rs1919212	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28372028	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28420592	0.90[EUR][1000 genomes]
rs28445981	0.90[EUR][1000 genomes]
rs28483089	0.86[EUR][1000 genomes]
rs28502504	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28504661	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28532945	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28550027	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28576181	0.93[EUR][1000 genomes]
rs28635613	0.87[EUR][1000 genomes]
rs28648419	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28704122	0.90[EUR][1000 genomes]
rs28712025	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28758777	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72902292	0.80[EUR][1000 genomes]
rs9990571	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9991086	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9993039	0.82[CHB][hapmap];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2760882	chr4:99460485-99521345	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99445400-99465400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr4:99446000-99467400	Weak transcription	Fetal Stomach	stomach
3	chr4:99449800-99467400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:99450200-99467400	Weak transcription	Osteobl	bone
5	chr4:99450400-99465200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:99450800-99468000	Weak transcription	HSMM	muscle
7	chr4:99458200-99465400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:99459000-99468000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:99459200-99465000	Weak transcription	Fetal Brain Male	brain
10	chr4:99459200-99468000	Weak transcription	Esophagus	oesophagus
11	chr4:99459200-99479600	Weak transcription	Spleen	Spleen
12	chr4:99459600-99465000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:99459600-99465400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:99459600-99465400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:99459600-99466000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:99459600-99467800	Weak transcription	NHLF	lung
17	chr4:99459800-99465400	Weak transcription	Brain Anterior Caudate	brain
18	chr4:99461000-99467400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:99461200-99465400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:99462400-99465400	Weak transcription	Brain Angular Gyrus	brain
21	chr4:99462600-99465400	Weak transcription	Brain Substantia Nigra	brain
22	chr4:99463000-99465400	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:99463200-99465400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:99463400-99465400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr4:99463400-99467600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:99463600-99467600	Weak transcription	HMEC	breast
27	chr4:99463800-99465600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr4:99463800-99478800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:99464000-99468000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:99464400-99465400	Weak transcription	Fetal Heart	heart
31	chr4:99464400-99465400	Weak transcription	Ovary	ovary
32	chr4:99464800-99467800	Enhancers	Fetal Brain Female	brain
33	chr4:99464800-99468000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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