Variant report

Variant	rs3820636
Chromosome Location	chr1:226841347-226841348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226834690..226837543-chr1:226839422..226842104,4	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12077348	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs12405164	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12568026	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2236604	0.86[YRI][hapmap];0.86[AFR][1000 genomes]
rs35483910	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3754387	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3768371	0.86[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3768372	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3768373	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[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	nsv873234	chr1:226779449-226859676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	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
3	nsv873235	chr1:226819073-226851963	Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226823200-226841400	Weak transcription	NHDF-Ad	bronchial
2	chr1:226829400-226843800	Weak transcription	Brain Germinal Matrix	brain
3	chr1:226831400-226841600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:226832000-226843800	Weak transcription	HMEC	breast
5	chr1:226832400-226843600	Weak transcription	Stomach Mucosa	stomach
6	chr1:226833600-226844000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:226833800-226841600	Weak transcription	Fetal Heart	heart
8	chr1:226834600-226841400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:226835200-226841600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:226836000-226841400	Weak transcription	NHLF	lung
11	chr1:226836000-226844000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:226836000-226844200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:226836200-226842000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:226836200-226842000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:226836400-226847200	Weak transcription	Ovary	ovary
16	chr1:226836600-226841400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:226836600-226841400	Weak transcription	Fetal Intestine Large	intestine
18	chr1:226836600-226841400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:226836800-226856200	Enhancers	Left Ventricle	heart
20	chr1:226837000-226841400	Weak transcription	Fetal Intestine Small	intestine
21	chr1:226837000-226842200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:226837000-226843800	Enhancers	Colon Smooth Muscle	Colon
23	chr1:226837000-226849800	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr1:226837200-226842200	Weak transcription	Liver	Liver
25	chr1:226837200-226843000	Enhancers	Brain Hippocampus Middle	brain
26	chr1:226837200-226844800	Enhancers	Right Ventricle	heart
27	chr1:226837200-226846000	Enhancers	Brain Anterior Caudate	brain
28	chr1:226837400-226841400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:226837400-226841400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:226837400-226841400	Enhancers	Brain Cingulate Gyrus	brain
31	chr1:226837400-226841400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:226837400-226841400	Enhancers	Rectal Smooth Muscle	rectum
33	chr1:226837400-226841600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr1:226837400-226841600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr1:226837400-226842000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr1:226837400-226842000	Weak transcription	Fetal Kidney	kidney
37	chr1:226837400-226842400	Weak transcription	Gastric	stomach
38	chr1:226837400-226843800	Weak transcription	Fetal Brain Male	brain
39	chr1:226837400-226844000	Weak transcription	NHEK	skin
40	chr1:226837400-226848600	Enhancers	Right Atrium	heart
41	chr1:226837400-226856200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:226837400-226856600	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr1:226837400-226856600	Enhancers	Brain Substantia Nigra	brain
44	chr1:226837600-226841400	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr1:226837600-226844600	Enhancers	Placenta	Placenta
46	chr1:226837600-226845600	Enhancers	Lung	lung
47	chr1:226837800-226844400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:226838200-226845200	Enhancers	Fetal Muscle Trunk	muscle
49	chr1:226838400-226841400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr1:226838600-226841400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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