Variant report

Variant	rs11068793
Chromosome Location	chr12:118494885-118494886
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:118494636-118495107	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr12:118493735-118495022	PANC-1	pancreas:	n/a	n/a
3	TCF12	chr12:118493761-118495001	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:118488121..118491421-chr12:118492938..118496447,4	K562	blood:
2	chr12:118492843..118495653-chr12:118505555..118507815,2	MCF-7	breast:
3	chr12:118474167..118477019-chr12:118493239..118495940,2	MCF-7	breast:
4	chr12:118492994..118495394-chr12:118535946..118537983,2	MCF-7	breast:
5	chr12:118490804..118495433-chr12:118539497..118543131,5	MCF-7	breast:

No data

Variant related genes	Relation type
WSB2	TF binding region
ENSG00000176871	Chromatin interaction
ENSG00000176834	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11068782	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs11068783	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12309202	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs7306158	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7963217	0.84[AFR][1000 genomes];1.00[AMR][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	esv1795965	chr12:118463329-118504859	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118455200-118497400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:118476400-118497600	Weak transcription	Fetal Brain Male	brain
3	chr12:118477000-118497600	Weak transcription	Primary B cells from cord blood	blood
4	chr12:118480800-118497200	Weak transcription	Fetal Kidney	kidney
5	chr12:118481000-118498200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:118481200-118497600	Weak transcription	Fetal Thymus	thymus
7	chr12:118481400-118497800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:118482600-118497600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr12:118482600-118497600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:118482800-118497200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:118489400-118497200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:118489600-118496800	Weak transcription	GM12878-XiMat	blood
13	chr12:118489600-118497200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:118490400-118497400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:118490400-118497400	Enhancers	Liver	Liver
16	chr12:118490600-118496800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr12:118490600-118497200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:118490600-118497200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:118490600-118497200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:118490600-118497400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr12:118490800-118497400	Weak transcription	Primary T cells from cord blood	blood
22	chr12:118490800-118497800	Weak transcription	Thymus	Thymus
23	chr12:118491000-118495800	Weak transcription	Fetal Brain Female	brain
24	chr12:118491000-118497200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:118491000-118497200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:118491000-118497200	Weak transcription	Brain Germinal Matrix	brain
27	chr12:118491000-118497400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:118491000-118497400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:118491000-118497600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:118491200-118496800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:118491200-118497200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:118491200-118497200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:118491200-118497400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:118491200-118497400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:118491200-118497400	Weak transcription	Aorta	Aorta
36	chr12:118491200-118497400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:118491200-118497600	Weak transcription	Esophagus	oesophagus
38	chr12:118491200-118497600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr12:118491400-118497200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr12:118491400-118497200	Weak transcription	Fetal Heart	heart
41	chr12:118491400-118497400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr12:118491400-118497600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:118491600-118495600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:118491600-118495800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:118491600-118496800	Weak transcription	NHEK	skin
46	chr12:118491600-118497000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:118491600-118497000	Weak transcription	Brain Anterior Caudate	brain
48	chr12:118491600-118497000	Weak transcription	Brain Substantia Nigra	brain
49	chr12:118491600-118497200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:118491600-118497200	Weak transcription	Brain Cingulate Gyrus	brain

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