Variant report

Variant	rs3768393
Chromosome Location	chr1:226880849-226880850
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226880308..226883489-chr1:226893060..226896461,3	K562	blood:
2	chr1:226849475..226852007-chr1:226878804..226881377,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1070361	0.99[ASN][1000 genomes]
rs1071530	1.00[CHB][hapmap];0.93[JPT][hapmap];0.99[ASN][1000 genomes]
rs1288936	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs1288938	0.83[CHB][hapmap];1.00[CHD][hapmap];0.87[JPT][hapmap];0.97[ASN][1000 genomes]
rs1288939	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17589895	1.00[YRI][hapmap]
rs3768396	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3820640	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[ASN][1000 genomes]
rs41440951	1.00[YRI][hapmap]
rs697847	1.00[ASN][1000 genomes]
rs708766	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv997468	chr1:226858660-226975311	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv535316	chr1:226858660-226975311	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226868200-226884600	Enhancers	Brain Substantia Nigra	brain
2	chr1:226868400-226881200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr1:226868400-226881400	Enhancers	Brain Angular Gyrus	brain
4	chr1:226868400-226881800	Enhancers	Fetal Muscle Leg	muscle
5	chr1:226868600-226881200	Enhancers	Adipose Nuclei	Adipose
6	chr1:226868600-226884800	Weak transcription	Fetal Kidney	kidney
7	chr1:226868600-226888200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:226869000-226881800	Enhancers	Colon Smooth Muscle	Colon
9	chr1:226869000-226884200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:226869000-226884200	Weak transcription	NHLF	lung
11	chr1:226869000-226884400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:226870000-226888800	Genic enhancers	Primary T cells fromperipheralblood	blood
13	chr1:226872000-226881000	Enhancers	Right Ventricle	heart
14	chr1:226872800-226890000	Weak transcription	Pancreas	Pancrea
15	chr1:226873400-226884600	Weak transcription	Gastric	stomach
16	chr1:226874400-226885200	Weak transcription	Colonic Mucosa	Colon
17	chr1:226875200-226884600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:226876600-226884400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:226876600-226885000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:226876800-226881000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:226876800-226881200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr1:226876800-226881400	Enhancers	Brain Cingulate Gyrus	brain
23	chr1:226876800-226884800	Weak transcription	HSMM	muscle
24	chr1:226876800-226887600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr1:226876800-226890400	Genic enhancers	Primary T cells from cord blood	blood
26	chr1:226877200-226881000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:226877200-226884600	Weak transcription	NHDF-Ad	bronchial
28	chr1:226877800-226881000	Enhancers	Left Ventricle	heart
29	chr1:226877800-226881200	Enhancers	Fetal Lung	lung
30	chr1:226877800-226881200	Enhancers	Placenta	Placenta
31	chr1:226877800-226881400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:226877800-226890200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr1:226878000-226881000	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr1:226878000-226881200	Enhancers	Fetal Muscle Trunk	muscle
35	chr1:226878000-226881200	Genic enhancers	GM12878-XiMat	blood
36	chr1:226878000-226882400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:226878200-226881000	Enhancers	Right Atrium	heart
38	chr1:226878200-226881000	Genic enhancers	Thymus	Thymus
39	chr1:226878200-226881200	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr1:226878200-226881200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr1:226878400-226890800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:226878600-226881000	Weak transcription	Fetal Brain Male	brain
43	chr1:226878600-226883200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:226878600-226889400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:226878600-226889600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr1:226878800-226881000	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr1:226878800-226881800	Enhancers	Rectal Smooth Muscle	rectum
48	chr1:226878800-226883200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:226879000-226882400	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr1:226879000-226883200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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