Variant report

Variant	rs12228619
Chromosome Location	chr12:105750308-105750309
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	chr12:105746012..105748494-chr12:105749131..105751106,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235162	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10861399	0.87[CHB][hapmap];0.92[CHD][hapmap];0.80[ASN][1000 genomes]
rs34483838	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35759755	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8181654	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]

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	nsv899500	chr12:105742674-105803028	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr12:105730600-105755400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:105734800-105750800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:105734800-105776600	Weak transcription	Esophagus	oesophagus
4	chr12:105735000-105776600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:105735200-105750800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:105735400-105756800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:105735600-105750600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:105735600-105753800	Weak transcription	Fetal Stomach	stomach
9	chr12:105735600-105766800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:105735600-105776600	Weak transcription	Fetal Intestine Small	intestine
11	chr12:105738000-105752000	Weak transcription	Spleen	Spleen
12	chr12:105738200-105750600	Weak transcription	Primary B cells from cord blood	blood
13	chr12:105741800-105750800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:105744400-105750800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:105745800-105750800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:105746000-105776800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:105746200-105750600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:105747000-105750800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:105747000-105750800	Weak transcription	Stomach Mucosa	stomach
20	chr12:105747000-105753600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:105747000-105753800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:105747000-105762000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:105747000-105772600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr12:105747000-105773200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:105747200-105750600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr12:105747200-105750600	Enhancers	A549	lung
27	chr12:105747200-105750800	Weak transcription	HUVEC	blood vessel
28	chr12:105747200-105761400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:105747200-105766000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:105747400-105750600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:105747400-105750600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:105747400-105750600	Weak transcription	Fetal Thymus	thymus
33	chr12:105747400-105750800	Weak transcription	Aorta	Aorta
34	chr12:105747400-105761800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:105747400-105762000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:105748000-105750800	Weak transcription	Thymus	Thymus
37	chr12:105748000-105776600	Weak transcription	Gastric	stomach
38	chr12:105748400-105750400	Enhancers	GM12878-XiMat	blood
39	chr12:105748800-105751200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:105748800-105751600	Enhancers	Dnd41	blood
41	chr12:105748800-105753800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr12:105748800-105776800	Weak transcription	Pancreas	Pancrea
43	chr12:105749000-105750600	Enhancers	NHDF-Ad	bronchial
44	chr12:105749200-105750400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:105749200-105752000	Enhancers	Osteobl	bone
46	chr12:105749400-105751600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:105749400-105751600	Enhancers	NH-A	brain
48	chr12:105749400-105751800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr12:105749600-105750400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:105749600-105750800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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