Variant report

Variant	rs12292399
Chromosome Location	chr11:46801359-46801360
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	chr11:46800295..46801836-chr11:46805253..46808228,2	MCF-7	breast:
2	chr11:46800078..46802503-chr11:47181465..47183295,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175216	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11038967	1.00[YRI][hapmap]
rs11038992	1.00[AMR][1000 genomes]
rs11819818	1.00[YRI][hapmap]
rs12276664	0.92[YRI][hapmap]
rs12278517	1.00[YRI][hapmap]
rs3136452	0.91[YRI][hapmap]
rs3136455	0.92[YRI][hapmap]
rs3136483	0.83[AFR][1000 genomes]
rs7113194	0.92[YRI][hapmap]
rs7952678	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430382	chr11:46743135-46849360	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv3388509	chr11:46763105-46818814	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46761400-46840000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:46761400-46845200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:46761600-46824600	Strong transcription	Fetal Thymus	thymus
4	chr11:46762600-46804000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:46762600-46826000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:46762600-46841400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:46762800-46804800	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:46762800-46835600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr11:46762800-46842400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr11:46763400-46839600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:46770200-46818200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:46778800-46841200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:46779400-46824600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:46780600-46814000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr11:46782600-46847400	Weak transcription	Stomach Mucosa	stomach
16	chr11:46784000-46804000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:46785800-46807800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:46786000-46809600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:46787000-46828200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:46787800-46824600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:46788000-46826200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:46788200-46825800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:46788200-46841400	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:46788600-46824200	Strong transcription	Fetal Muscle Trunk	muscle
25	chr11:46788600-46840600	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:46788800-46824000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:46791800-46801400	Weak transcription	Psoas Muscle	Psoas
28	chr11:46792000-46803200	Weak transcription	Fetal Heart	heart
29	chr11:46792000-46805800	Weak transcription	Small Intestine	intestine
30	chr11:46795200-46820400	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr11:46796200-46807400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:46796400-46821400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:46796400-46824600	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr11:46796600-46802000	Strong transcription	Brain Anterior Caudate	brain
35	chr11:46796600-46803000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:46796600-46808000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr11:46796600-46825800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:46796800-46801800	Strong transcription	Brain Substantia Nigra	brain
39	chr11:46796800-46802200	Strong transcription	Left Ventricle	heart
40	chr11:46796800-46802200	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:46796800-46802400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:46796800-46802400	Strong transcription	Adipose Nuclei	Adipose
43	chr11:46796800-46802800	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:46796800-46803000	Strong transcription	Fetal Lung	lung
45	chr11:46796800-46803200	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr11:46796800-46803200	Strong transcription	Primary T cells from cord blood	blood
47	chr11:46796800-46803400	Strong transcription	Fetal Intestine Large	intestine
48	chr11:46796800-46804200	Strong transcription	Thymus	Thymus
49	chr11:46796800-46805200	Strong transcription	Fetal Kidney	kidney
50	chr11:46796800-46805200	Strong transcription	Rectal Mucosa Donor 31	rectum

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