Variant report

Variant	rs12096715
Chromosome Location	chr1:57032819-57032820
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57008382..57010027-chr1:57032714..57034391,2	MCF-7	breast:
2	chr1:57015989..57018935-chr1:57031658..57034048,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10493212	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10888981	0.88[AFR][1000 genomes]
rs11206843	1.00[AMR][1000 genomes]
rs11206847	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12059747	0.80[MKK][hapmap];0.80[YRI][hapmap]
rs12070247	0.80[MKK][hapmap];0.80[YRI][hapmap]
rs12098117	0.87[YRI][hapmap]
rs1418521	0.93[MKK][hapmap];0.81[AFR][1000 genomes]
rs17114023	1.00[MEX][hapmap]
rs17114126	0.80[YRI][hapmap];0.86[AFR][1000 genomes]
rs17114252	1.00[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57016000-57038600	Weak transcription	HSMMtube	muscle
2	chr1:57017400-57035400	Weak transcription	Esophagus	oesophagus
3	chr1:57017400-57035400	Weak transcription	Fetal Thymus	thymus
4	chr1:57017400-57039400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:57017800-57040800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:57023800-57033000	Enhancers	Brain Hippocampus Middle	brain
7	chr1:57025600-57040000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:57026000-57033200	Enhancers	Fetal Intestine Large	intestine
9	chr1:57026200-57033000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:57026800-57033000	Enhancers	Fetal Intestine Small	intestine
11	chr1:57027000-57034200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:57027400-57034200	Enhancers	Brain Anterior Caudate	brain
13	chr1:57027400-57034400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:57027600-57033000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:57027800-57033000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr1:57027800-57033200	Enhancers	Brain Cingulate Gyrus	brain
17	chr1:57027800-57034400	Enhancers	Brain Substantia Nigra	brain
18	chr1:57028000-57033000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:57028000-57035400	Weak transcription	Colonic Mucosa	Colon
20	chr1:57028200-57033000	Enhancers	Brain Angular Gyrus	brain
21	chr1:57028400-57033000	Enhancers	Duodenum Mucosa	Duodenum
22	chr1:57028600-57033000	Enhancers	Colon Smooth Muscle	Colon
23	chr1:57028800-57034400	Weak transcription	Lung	lung
24	chr1:57028800-57035400	Weak transcription	Gastric	stomach
25	chr1:57029400-57042200	Weak transcription	Thymus	Thymus
26	chr1:57030000-57035400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:57030400-57033000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr1:57030600-57033000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:57030600-57033000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr1:57030800-57033000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr1:57030800-57036800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:57031000-57033000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr1:57031000-57033600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:57031000-57035400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr1:57031400-57033000	Flanking Active TSS	Liver	Liver
36	chr1:57031600-57033000	Enhancers	Fetal Kidney	kidney
37	chr1:57031600-57033000	Genic enhancers	Fetal Lung	lung
38	chr1:57031600-57033000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr1:57031800-57033000	Enhancers	Fetal Brain Female	brain
40	chr1:57032000-57033600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr1:57032000-57034200	Weak transcription	Psoas Muscle	Psoas
42	chr1:57032000-57035400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:57032000-57035400	Weak transcription	Spleen	Spleen
44	chr1:57032000-57035400	Genic enhancers	NHDF-Ad	bronchial
45	chr1:57032000-57035600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:57032000-57036800	Weak transcription	Fetal Stomach	stomach
47	chr1:57032000-57038800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:57032200-57033400	Weak transcription	Placenta	Placenta
49	chr1:57032200-57034600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:57032200-57035400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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