Variant report

Variant	rs2978424
Chromosome Location	chr8:103329222-103329223
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103327893..103330442-chr8:103665150..103667023,2	MCF-7	breast:
2	chr8:103315506..103318243-chr8:103326156..103330411,3	MCF-7	breast:
3	chr8:103320694..103323615-chr8:103327057..103329412,3	K562	blood:
4	chr8:103327228..103329926-chr8:103422908..103424806,2	MCF-7	breast:
5	chr8:103322301..103325413-chr8:103327690..103330553,4	MCF-7	breast:
6	chr8:103328642..103330645-chr8:103421922..103425963,5	MCF-7	breast:
7	chr8:103327670..103330678-chr8:103666795..103668657,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104517	Chromatin interaction
ENSG00000155090	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10090707	1.00[CHB][hapmap]
rs10091086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10094942	0.83[ASN][1000 genomes]
rs10099641	1.00[CHB][hapmap]
rs10102559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10103923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10108510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108699	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10112713	1.00[CHB][hapmap]
rs10481100	1.00[CHB][hapmap]
rs10481101	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12114813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12335330	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]
rs12707772	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13258207	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13267556	1.00[CHB][hapmap]
rs2168689	1.00[CHB][hapmap]
rs28368586	1.00[ASN][1000 genomes]
rs28421590	1.00[CHB][hapmap]
rs28491719	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28658545	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28789744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2925778	1.00[CHB][hapmap]
rs2925783	1.00[CHB][hapmap]
rs2925784	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2925785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2925787	1.00[CHB][hapmap]
rs2925791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2978425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2978426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2978432	1.00[CHB][hapmap]
rs3018507	1.00[CHB][hapmap]
rs3018532	1.00[CEU][hapmap]
rs3018533	1.00[CEU][hapmap]
rs3018536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3018537	1.00[CHB][hapmap]
rs3018539	1.00[CEU][hapmap]
rs3018540	1.00[ASN][1000 genomes]
rs3018541	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3018542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3018543	1.00[CHB][hapmap]
rs7840202	1.00[CHB][hapmap]
rs9649999	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	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
5	nsv1018990	chr8:103207922-103357742	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539702	chr8:103207922-103357742	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv528486	chr8:103279922-103373304	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103262600-103329800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:103300000-103329400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr8:103300000-103329800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr8:103300000-103330000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:103300200-103342800	Weak transcription	Stomach Mucosa	stomach
6	chr8:103300200-103343000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr8:103300600-103331600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:103304600-103329400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr8:103308000-103338200	Weak transcription	Gastric	stomach
10	chr8:103313600-103329400	Strong transcription	Fetal Thymus	thymus
11	chr8:103313600-103329600	Strong transcription	Primary B cells from peripheral blood	blood
12	chr8:103318200-103338200	Weak transcription	Aorta	Aorta
13	chr8:103318800-103329800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:103319400-103343400	Weak transcription	Small Intestine	intestine
15	chr8:103323200-103329400	Weak transcription	Esophagus	oesophagus
16	chr8:103323600-103338200	Weak transcription	Brain Angular Gyrus	brain
17	chr8:103323800-103338400	Weak transcription	Pancreas	Pancrea
18	chr8:103324200-103339200	Weak transcription	Fetal Kidney	kidney
19	chr8:103324600-103343600	Weak transcription	Fetal Brain Male	brain
20	chr8:103324800-103335600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr8:103324800-103338200	Weak transcription	Spleen	Spleen
22	chr8:103325000-103335400	Weak transcription	Fetal Heart	heart
23	chr8:103325400-103338400	Weak transcription	Colonic Mucosa	Colon
24	chr8:103325400-103338400	Weak transcription	Psoas Muscle	Psoas
25	chr8:103325600-103338200	Weak transcription	Ovary	ovary
26	chr8:103325600-103358200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:103325800-103338200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:103326000-103335400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:103326000-103335400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:103326000-103336600	Weak transcription	NHDF-Ad	bronchial
31	chr8:103326000-103354000	Weak transcription	Lung	lung
32	chr8:103326200-103335400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:103326200-103335400	Weak transcription	Brain Anterior Caudate	brain
34	chr8:103326200-103336600	Weak transcription	Primary T cells from cord blood	blood
35	chr8:103326200-103337000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr8:103326200-103337000	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:103326200-103337000	Weak transcription	NHLF	lung
38	chr8:103326200-103337200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr8:103326200-103338000	Weak transcription	HSMMtube	muscle
40	chr8:103326200-103338200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:103326200-103338200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr8:103326200-103338400	Weak transcription	Right Ventricle	heart
43	chr8:103326200-103339000	Weak transcription	Brain Germinal Matrix	brain
44	chr8:103326400-103335400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:103326400-103335400	Weak transcription	Fetal Brain Female	brain
46	chr8:103326400-103335400	Weak transcription	Fetal Lung	lung
47	chr8:103326400-103335400	Weak transcription	Left Ventricle	heart
48	chr8:103326400-103335400	Weak transcription	A549	lung
49	chr8:103326400-103335400	Weak transcription	HepG2	liver
50	chr8:103326400-103336600	Weak transcription	Colon Smooth Muscle	Colon

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