Variant report

Variant	rs10280313
Chromosome Location	chr7:8191150-8191151
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	chr7:8186750..8189345-chr7:8189714..8191287,2	MCF-7	breast:
2	chr7:8189916..8192484-chr7:8199081..8201133,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10282493	0.80[EUR][1000 genomes]
rs13226206	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs35808857	1.00[ASN][1000 genomes]
rs36099259	1.00[ASN][1000 genomes]
rs6463771	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1020686	chr7:8095118-8311985	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS 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
3	nsv538723	chr7:8095118-8311985	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv949024	chr7:8176301-8522495	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv1031226	chr7:8176311-8569811	Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv538724	chr7:8176311-8569811	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv887492	chr7:8177689-8513927	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv1026247	chr7:8178837-8527868	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv464305	chr7:8179655-8524707	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv606050	chr7:8179655-8524707	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
11	nsv1020942	chr7:8179655-8524774	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv464307	chr7:8179846-8453313	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
13	nsv606051	chr7:8179846-8453313	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
14	nsv1034583	chr7:8180210-8527868	Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
15	nsv1030373	chr7:8184961-8527868	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
16	nsv949082	chr7:8189594-8494386	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
17	nsv948997	chr7:8189594-8522495	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8150600-8200000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:8162400-8192800	Weak transcription	Colonic Mucosa	Colon
3	chr7:8167800-8192200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:8170000-8192000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:8172400-8215800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:8176200-8197000	Weak transcription	Stomach Mucosa	stomach
7	chr7:8176400-8200600	Weak transcription	K562	blood
8	chr7:8180200-8192200	Weak transcription	Psoas Muscle	Psoas
9	chr7:8181000-8192200	Weak transcription	Lung	lung
10	chr7:8181200-8201200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:8181400-8200000	Weak transcription	Fetal Intestine Small	intestine
12	chr7:8183400-8195000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:8183600-8192200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:8183600-8192200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:8183600-8195000	Weak transcription	Gastric	stomach
16	chr7:8183600-8195400	Weak transcription	Fetal Intestine Large	intestine
17	chr7:8186400-8192000	Weak transcription	Pancreas	Pancrea
18	chr7:8186800-8195600	Weak transcription	Fetal Brain Male	brain
19	chr7:8186800-8208600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:8187000-8192000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:8187000-8201000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:8187200-8200800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:8187400-8192200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:8187400-8196000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr7:8187600-8200600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:8187800-8192000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:8187800-8192000	Weak transcription	Right Atrium	heart
28	chr7:8187800-8195000	Weak transcription	Left Ventricle	heart
29	chr7:8188000-8200000	Weak transcription	Fetal Heart	heart
30	chr7:8188800-8193200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr7:8189000-8192200	Weak transcription	Thymus	Thymus
32	chr7:8189200-8191200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:8189200-8192600	Weak transcription	Fetal Thymus	thymus
34	chr7:8189400-8192200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr7:8189600-8193800	Weak transcription	Liver	Liver
36	chr7:8189600-8200600	Weak transcription	HUVEC	blood vessel
37	chr7:8189800-8191200	Enhancers	Fetal Muscle Leg	muscle
38	chr7:8190000-8192000	Weak transcription	Fetal Kidney	kidney
39	chr7:8190000-8192200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr7:8190200-8191200	Enhancers	Brain Hippocampus Middle	brain
41	chr7:8190200-8191800	Enhancers	Brain Germinal Matrix	brain
42	chr7:8190200-8192200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr7:8190200-8193400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:8190200-8193800	Weak transcription	Primary T cells from cord blood	blood
45	chr7:8190400-8191200	Enhancers	Stomach Smooth Muscle	stomach
46	chr7:8190400-8191800	Enhancers	Fetal Muscle Trunk	muscle
47	chr7:8190400-8194400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr7:8190600-8191200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr7:8190600-8191600	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr7:8190600-8191600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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