Variant report

Variant	rs12494107
Chromosome Location	chr3:69252606-69252607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs4290807	0.81[JPT][hapmap]
rs4378970	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4449323	0.81[ASN][1000 genomes]
rs4521234	0.82[JPT][hapmap]
rs4635709	0.81[GIH][hapmap]
rs4855364	0.83[GIH][hapmap]
rs59076594	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6775076	0.92[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6784519	0.88[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs6801597	0.96[ASN][1000 genomes]
rs72930255	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72932128	0.83[ASN][1000 genomes]
rs72932134	0.94[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs72932136	0.91[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7620845	0.82[EUR][1000 genomes]
rs7647940	0.89[YRI][hapmap]
rs9811034	1.00[CEU][hapmap];0.82[EUR][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	esv3398378	chr3:69240573-69271936	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69232000-69275600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:69242400-69281600	Weak transcription	Brain Germinal Matrix	brain
3	chr3:69242600-69268800	Weak transcription	Spleen	Spleen
4	chr3:69244000-69264800	Weak transcription	Fetal Brain Female	brain
5	chr3:69244200-69261800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:69246200-69266800	Weak transcription	HSMM	muscle
7	chr3:69247000-69254000	Weak transcription	Fetal Brain Male	brain
8	chr3:69247200-69253200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:69248200-69257000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:69249000-69255400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr3:69249000-69263000	Weak transcription	Lung	lung
12	chr3:69249400-69257600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr3:69249800-69254600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:69249800-69254600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:69250000-69252800	Weak transcription	GM12878-XiMat	blood
16	chr3:69250000-69253600	Weak transcription	HSMMtube	muscle
17	chr3:69250000-69255200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr3:69250000-69258400	Weak transcription	Fetal Thymus	thymus
19	chr3:69250000-69261600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr3:69250000-69263000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr3:69250000-69269200	Weak transcription	Thymus	Thymus
22	chr3:69250000-69272400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr3:69250000-69281600	Weak transcription	Esophagus	oesophagus
24	chr3:69250200-69252800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:69250200-69253200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr3:69250200-69253200	Weak transcription	Pancreas	Pancrea
27	chr3:69250200-69253400	Weak transcription	Adipose Nuclei	Adipose
28	chr3:69250200-69254800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr3:69250200-69255400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr3:69250200-69255600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr3:69250200-69257600	Weak transcription	Fetal Lung	lung
32	chr3:69250200-69262000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr3:69250200-69262800	Weak transcription	Fetal Stomach	stomach
34	chr3:69250200-69263200	Weak transcription	Dnd41	blood
35	chr3:69250200-69268800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr3:69250200-69268800	Weak transcription	Ovary	ovary
37	chr3:69250200-69286000	Weak transcription	Colonic Mucosa	Colon
38	chr3:69250400-69252800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:69250400-69252800	Weak transcription	Small Intestine	intestine
40	chr3:69250400-69253000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr3:69250400-69253200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr3:69250400-69254800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:69250400-69260200	Weak transcription	Fetal Muscle Leg	muscle
44	chr3:69250400-69264800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:69250400-69268400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr3:69250400-69280000	Weak transcription	Fetal Kidney	kidney
47	chr3:69250600-69253000	Weak transcription	Liver	Liver
48	chr3:69250600-69253400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr3:69251000-69253000	Weak transcription	HUVEC	blood vessel
50	chr3:69251000-69253200	Enhancers	A549	lung

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