Variant report

Variant	rs1620482
Chromosome Location	chr2:74387226-74387227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74384926..74387253-chr2:74390788..74392789,2	K562	blood:
2	chr2:74156056..74157899-chr2:74385215..74387882,2	K562	blood:
3	chr2:74385520..74388334-chr2:74423679..74426509,3	K562	blood:
4	chr2:74385372..74388411-chr2:74424693..74427061,3	MCF-7	breast:
5	chr2:74382240..74383981-chr2:74386792..74388398,2	K562	blood:

Variant related genes	Relation type
ENSG00000065911	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11126426	0.92[ASW][hapmap];0.95[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs13426653	0.84[ASN][1000 genomes]
rs1667601	0.84[CEU][hapmap];0.84[CHB][hapmap];0.96[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1667605	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1667606	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1667609	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1723292	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34611905	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35864597	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6546893	0.87[ASN][1000 genomes]
rs6546894	0.84[ASN][1000 genomes]
rs702462	0.86[GIH][hapmap]
rs702466	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7340453	0.86[GIH][hapmap]
rs7559252	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7562297	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8001	0.84[ASN][1000 genomes]
rs828853	0.84[ASN][1000 genomes]
rs828856	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs828873	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs828876	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs828877	0.96[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs828882	0.92[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs828883	0.92[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs828884	0.92[CEU][hapmap];0.84[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs828885	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs828886	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs828888	0.92[CEU][hapmap];0.84[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs828889	0.96[CEU][hapmap];0.84[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs828903	0.90[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs844168	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[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	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv3427010	chr2:74351730-74813541	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74375800-74391200	Weak transcription	Aorta	Aorta
2	chr2:74375800-74403600	Weak transcription	Stomach Mucosa	stomach
3	chr2:74376000-74390400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:74376000-74391800	Weak transcription	Colonic Mucosa	Colon
5	chr2:74376000-74405000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:74376200-74395200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:74376400-74400600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:74376800-74391200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:74376800-74395400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:74376800-74397200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:74377200-74400000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:74377400-74400400	Strong transcription	Fetal Thymus	thymus
13	chr2:74377600-74392000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:74377600-74399200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:74377600-74399600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:74377600-74399600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:74377600-74399600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:74377600-74399800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:74377800-74387400	Strong transcription	NH-A	brain
20	chr2:74377800-74392000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr2:74377800-74392000	Strong transcription	Dnd41	blood
22	chr2:74377800-74399200	Strong transcription	Primary B cells from peripheral blood	blood
23	chr2:74377800-74399400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:74377800-74399800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:74377800-74399800	Strong transcription	Duodenum Mucosa	Duodenum
26	chr2:74377800-74399800	Strong transcription	Placenta	Placenta
27	chr2:74377800-74400000	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:74377800-74400200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:74377800-74400200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr2:74377800-74400400	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:74377800-74400400	Strong transcription	A549	lung
32	chr2:74378000-74391800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr2:74378000-74392000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:74378000-74399200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr2:74378200-74400400	Strong transcription	Primary T cells from cord blood	blood
36	chr2:74378400-74392000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:74378400-74396400	Strong transcription	Primary B cells from cord blood	blood
38	chr2:74378400-74399200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:74378600-74400400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr2:74378800-74392600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:74379000-74399600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:74379400-74399600	Strong transcription	Adipose Nuclei	Adipose
43	chr2:74379800-74399800	Strong transcription	Liver	Liver
44	chr2:74380000-74387400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:74380000-74387800	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr2:74380000-74392200	Strong transcription	Fetal Intestine Large	intestine
47	chr2:74380000-74399200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:74380000-74399600	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:74380000-74399600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr2:74380000-74399800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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