Variant report

Variant	rs2037830
Chromosome Location	chr1:186300984-186300985
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:186283967..186285727-chr1:186300715..186302293,2	K562	blood:
2	chr1:186299469..186302075-chr1:186319795..186321685,2	MCF-7	breast:
3	chr1:186292731..186297976-chr1:186298547..186302312,4	MCF-7	breast:
4	chr1:186299950..186302172-chr1:186316943..186319555,2	K562	blood:
5	chr1:186299128..186301637-chr1:187032908..187035344,2	K562	blood:

Variant related genes	Relation type
ENSG00000047410	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10494586	0.91[CHB][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10911855	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16825295	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1919198	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2026187	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2141393	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2178215	0.82[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2383476	0.82[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3115761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3124814	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3131550	0.81[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3131551	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3131558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3766706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3766708	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3766709	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6425026	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6657726	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6700930	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs878041	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8824	0.81[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1847807	chr1:186295930-186339878	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv548399	chr1:186295930-186353461	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186272000-186306000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:186277600-186342600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:186278400-186342600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr1:186278800-186320400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:186279400-186342400	Strong transcription	Fetal Thymus	thymus
6	chr1:186279600-186317600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:186279600-186342400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:186280000-186317600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:186280000-186320200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:186280000-186340400	Strong transcription	Dnd41	blood
11	chr1:186280000-186342000	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:186280000-186342400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:186280000-186342400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr1:186280000-186342400	Strong transcription	Osteobl	bone
15	chr1:186280000-186342600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:186280000-186342600	Strong transcription	HSMM	muscle
17	chr1:186280200-186316800	Strong transcription	Placenta	Placenta
18	chr1:186280200-186342200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:186280400-186317600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:186280400-186317600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:186280400-186342400	Strong transcription	Primary B cells from peripheral blood	blood
22	chr1:186280800-186342600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:186281000-186341800	Strong transcription	Liver	Liver
24	chr1:186281000-186342600	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:186281200-186317600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:186281200-186317800	Strong transcription	HUVEC	blood vessel
27	chr1:186281200-186338200	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr1:186281200-186341400	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr1:186281200-186341800	Strong transcription	Adipose Nuclei	Adipose
30	chr1:186281200-186342200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:186281200-186342200	Strong transcription	NH-A	brain
32	chr1:186281400-186341600	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr1:186281400-186342000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:186281400-186342000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:186281400-186342000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr1:186281400-186342200	Strong transcription	Hela-S3	cervix
37	chr1:186281400-186342400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:186281400-186342600	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:186281800-186335600	Strong transcription	HMEC	breast
40	chr1:186281800-186342200	Strong transcription	K562	blood
41	chr1:186282400-186319600	Weak transcription	Stomach Mucosa	stomach
42	chr1:186283400-186341000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:186283800-186327800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:186284000-186309400	Strong transcription	GM12878-XiMat	blood
45	chr1:186284400-186302200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:186285200-186342200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:186287000-186343400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:186287400-186305000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:186287800-186309600	Weak transcription	Fetal Intestine Small	intestine
50	chr1:186288000-186302000	Weak transcription	Lung	lung

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