Variant report

Variant	rs11064877
Chromosome Location	chr12:120128608-120128609
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120126910..120129886-chr12:120131473..120133704,2	K562	blood:
2	chr12:120111487..120113962-chr12:120126954..120129225,2	K562	blood:
3	chr12:120122749..120126442-chr12:120127143..120130647,6	K562	blood:
4	chr12:120128257..120130675-chr12:120137336..120140056,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111725	Chromatin interaction
ENSG00000255692	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11064878	1.00[ASN][1000 genomes]
rs3742046	0.84[CHB][hapmap];0.97[ASN][1000 genomes]

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	nsv1052595	chr12:119992580-120132038	Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv541616	chr12:119992580-120132038	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120108200-120161000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:120112600-120130400	Weak transcription	Right Atrium	heart
3	chr12:120116800-120201800	Weak transcription	Fetal Heart	heart
4	chr12:120117000-120145800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:120119200-120130200	Weak transcription	Brain Angular Gyrus	brain
6	chr12:120119200-120135400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:120119200-120141200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:120119600-120130200	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:120119600-120147000	Weak transcription	Brain Substantia Nigra	brain
10	chr12:120119800-120149800	Weak transcription	Placenta	Placenta
11	chr12:120120000-120129600	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:120120000-120135000	Weak transcription	Esophagus	oesophagus
13	chr12:120120000-120135200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:120120200-120148000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:120120400-120129400	Weak transcription	HSMM	muscle
16	chr12:120120400-120130200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:120120400-120137200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:120120400-120145600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:120120800-120137600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:120121000-120151800	Weak transcription	Primary T cells from cord blood	blood
21	chr12:120121200-120173400	Weak transcription	Primary B cells from cord blood	blood
22	chr12:120121400-120130400	Weak transcription	NH-A	brain
23	chr12:120121600-120129400	Weak transcription	HUVEC	blood vessel
24	chr12:120122000-120129400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:120122200-120130200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:120122200-120160800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:120123400-120128800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:120123400-120136200	Strong transcription	Thymus	Thymus
29	chr12:120123400-120182000	Strong transcription	Dnd41	blood
30	chr12:120123600-120129000	Weak transcription	Small Intestine	intestine
31	chr12:120123600-120130400	Weak transcription	Psoas Muscle	Psoas
32	chr12:120123600-120132200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:120124000-120128800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:120124000-120129400	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr12:120124200-120129000	Weak transcription	Fetal Lung	lung
36	chr12:120124200-120129000	Strong transcription	Fetal Stomach	stomach
37	chr12:120124200-120129400	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:120124200-120131200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:120124200-120132400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:120124400-120129200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr12:120124400-120130200	Weak transcription	Ovary	ovary
42	chr12:120124800-120129000	Weak transcription	Lung	lung
43	chr12:120125000-120129200	Weak transcription	Stomach Mucosa	stomach
44	chr12:120125200-120128800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:120125400-120129400	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:120125400-120129600	Strong transcription	Hela-S3	cervix
47	chr12:120125400-120130400	Weak transcription	Pancreas	Pancrea
48	chr12:120125400-120131600	Strong transcription	GM12878-XiMat	blood
49	chr12:120125400-120134800	Weak transcription	Gastric	stomach
50	chr12:120125600-120130000	Weak transcription	Muscle Satellite Cultured Cells	--

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