Variant report

Variant	rs12794698
Chromosome Location	chr11:45871861-45871862
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45823557..45830738-chr11:45863397..45877001,19	MCF-7	breast:
2	chr11:45869438..45872196-chr11:45903876..45906831,3	K562	blood:
3	chr11:45869749..45872196-chr11:45903148..45905376,2	K562	blood:
4	chr11:45871422..45873993-chr11:45887047..45888663,2	K562	blood:
5	chr11:45867823..45873583-chr11:45876186..45881298,10	MCF-7	breast:
6	chr11:45870732..45872515-chr11:45938481..45940935,2	K562	blood:

Variant related genes	Relation type
ENSG00000121680	Chromatin interaction
ENSG00000181830	Chromatin interaction
ENSG00000121671	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10838524	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038672	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11038678	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11038694	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605924	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607182	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11607883	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12419690	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12805422	0.83[EUR][1000 genomes]
rs12807179	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1401419	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34043764	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6485644	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6485645	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6485646	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7105751	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7112505	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7115753	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7121611	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7933420	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7945565	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945689	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45869800-45872000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:45869800-45873000	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr11:45869800-45873600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:45869800-45874000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:45869800-45883600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:45870000-45873200	Flanking Active TSS	Liver	Liver
7	chr11:45870200-45872800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:45870200-45875200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr11:45870400-45872000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:45870400-45872000	Weak transcription	Placenta	Placenta
11	chr11:45870400-45873600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:45870400-45873800	Weak transcription	Primary B cells from cord blood	blood
13	chr11:45870400-45875400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:45870400-45875600	Genic enhancers	Fetal Muscle Leg	muscle
15	chr11:45870400-45876400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:45870400-45878600	Weak transcription	HUVEC	blood vessel
17	chr11:45870600-45872000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr11:45870600-45872000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:45870600-45872000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:45870600-45872200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr11:45870600-45872200	Enhancers	Ovary	ovary
22	chr11:45870600-45872200	Weak transcription	HSMM	muscle
23	chr11:45870600-45872200	Weak transcription	HSMMtube	muscle
24	chr11:45870600-45872400	Enhancers	Lung	lung
25	chr11:45870600-45873000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr11:45870600-45873200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr11:45870600-45873600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:45870600-45873800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:45870600-45873800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr11:45870600-45873800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr11:45870600-45873800	Weak transcription	Fetal Stomach	stomach
32	chr11:45870600-45874000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:45870600-45875200	Weak transcription	Thymus	Thymus
34	chr11:45870600-45876600	Weak transcription	Fetal Thymus	thymus
35	chr11:45870600-45877000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:45870600-45877200	Enhancers	Left Ventricle	heart
37	chr11:45870600-45877400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr11:45870600-45877400	Weak transcription	Hela-S3	cervix
39	chr11:45870600-45877600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:45870600-45878800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:45870600-45879800	Weak transcription	Esophagus	oesophagus
42	chr11:45870800-45872000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:45870800-45872000	Weak transcription	Colonic Mucosa	Colon
44	chr11:45870800-45872000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr11:45870800-45872200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:45870800-45872200	Enhancers	Brain Hippocampus Middle	brain
47	chr11:45870800-45872200	Enhancers	Right Atrium	heart
48	chr11:45870800-45872400	Enhancers	Stomach Mucosa	stomach
49	chr11:45870800-45873600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:45870800-45873800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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