Variant report

Variant	rs440788
Chromosome Location	chr8:8708714-8708715
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8707079..8709143-chr8:8751442..8753018,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1039916	0.91[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs11783966	0.82[CEU][hapmap]
rs12677550	0.91[CEU][hapmap];0.82[CHB][hapmap]
rs12679021	0.82[CHB][hapmap]
rs12682352	0.82[CHB][hapmap]
rs13254903	0.96[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1567398	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1821007	0.80[ASN][1000 genomes]
rs2428	0.82[CHB][hapmap]
rs332037	0.83[ASN][1000 genomes]
rs332039	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs332040	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs3789843	0.89[ASN][1000 genomes]
rs3827806	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs408459	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs435953	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs437895	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4382480	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs4481596	0.86[ASN][1000 genomes]
rs4841044	0.82[CEU][hapmap]
rs4841051	0.91[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs4841054	0.82[EUR][1000 genomes]
rs4841055	0.95[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4841058	0.82[CHB][hapmap]
rs6601265	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6993494	0.86[CEU][hapmap]
rs6996376	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7006589	0.86[CEU][hapmap]
rs7017599	0.86[ASN][1000 genomes]
rs7813355	0.86[CEU][hapmap]
rs7820324	0.95[CEU][hapmap]
rs907183	1.00[CHB][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
11	nsv1015437	chr8:8681255-8723798	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1023221	chr8:8695393-8722418	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1024055	chr8:8697249-8721016	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv539459	chr8:8697249-8721016	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv2757257	chr8:8707639-8747894	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv2759591	chr8:8707639-8747894	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8692200-8717600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:8699400-8729600	Weak transcription	Fetal Stomach	stomach
3	chr8:8702200-8726000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:8702200-8726400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:8702400-8709600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr8:8702400-8713600	Weak transcription	Gastric	stomach
7	chr8:8703000-8725200	Weak transcription	Hela-S3	cervix
8	chr8:8703200-8709400	Weak transcription	Psoas Muscle	Psoas
9	chr8:8703600-8713600	Weak transcription	Brain Substantia Nigra	brain
10	chr8:8704200-8709400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:8705000-8723600	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:8705200-8709600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:8705600-8708800	Enhancers	Primary B cells from cord blood	blood
14	chr8:8705800-8708800	Weak transcription	Brain Anterior Caudate	brain
15	chr8:8705800-8709400	Weak transcription	Right Ventricle	heart
16	chr8:8705800-8713600	Weak transcription	Aorta	Aorta
17	chr8:8705800-8716800	Weak transcription	Dnd41	blood
18	chr8:8706000-8710600	Enhancers	Stomach Mucosa	stomach
19	chr8:8706200-8709600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr8:8706200-8709800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr8:8706200-8713600	Weak transcription	Fetal Brain Female	brain
22	chr8:8706200-8714000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:8706200-8717400	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:8706200-8717800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:8706400-8708800	Enhancers	Primary T cells fromperipheralblood	blood
26	chr8:8706400-8709000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr8:8706400-8709400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr8:8706400-8709600	Enhancers	Primary T cells from cord blood	blood
29	chr8:8706400-8709800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr8:8706400-8710200	Weak transcription	Brain Germinal Matrix	brain
31	chr8:8706400-8710600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr8:8706400-8710800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:8706400-8711000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr8:8706400-8712000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:8706400-8717600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:8706600-8708800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr8:8706600-8715400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:8707000-8708800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:8707000-8709400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr8:8707000-8709600	Flanking Active TSS	A549	lung
41	chr8:8707000-8710600	Enhancers	Rectal Smooth Muscle	rectum
42	chr8:8707000-8717600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:8707200-8708800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr8:8707200-8709000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:8707200-8709400	Weak transcription	Lung	lung
46	chr8:8707200-8726600	Weak transcription	Pancreas	Pancrea
47	chr8:8707400-8709800	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr8:8707400-8711400	Enhancers	HepG2	liver
49	chr8:8707400-8718200	Weak transcription	K562	blood
50	chr8:8707400-8721600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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