Variant report

Variant	rs6706663
Chromosome Location	chr2:113506673-113506674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113506583..113509292-chr2:113716187..113718342,2	K562	blood:
2	chr2:113494683..113496811-chr2:113506121..113508526,2	K562	blood:
3	chr2:113504578..113507107-chr2:113715041..113717876,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10165537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187872	0.96[CEU][hapmap];0.85[CHB][hapmap];0.97[EUR][1000 genomes]
rs10193063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10200192	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10203064	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10496445	0.81[CHB][hapmap]
rs11123148	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs11123149	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12463996	0.94[ASN][1000 genomes]
rs12475027	0.90[ASN][1000 genomes]
rs12478842	0.81[CHB][hapmap]
rs12622683	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12711741	0.81[CHB][hapmap]
rs13009294	0.81[CHB][hapmap]
rs13013602	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13015273	0.81[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13016817	0.90[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13019249	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13026263	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13027814	0.81[CHB][hapmap]
rs13036237	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13382217	0.89[ASN][1000 genomes]
rs13386452	0.85[CHB][hapmap]
rs13429613	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17649681	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2071373	0.81[CHB][hapmap]
rs2862226	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783546	0.81[CHB][hapmap]
rs3811040	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3827761	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4261731	0.95[ASN][1000 genomes]
rs4848298	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4848301	0.81[CHB][hapmap]
rs4848302	0.81[CHB][hapmap]
rs4849115	0.91[CHB][hapmap]
rs4849118	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55762606	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58694576	0.82[ASN][1000 genomes]
rs6712572	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6721044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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]
rs6721292	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6753803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591704	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7594852	0.80[EUR][1000 genomes]
rs7599690	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7607470	0.97[ASN][1000 genomes]
rs908551	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113484400-113507400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:113484600-113507600	Weak transcription	Colonic Mucosa	Colon
3	chr2:113484800-113507600	Weak transcription	Primary B cells from cord blood	blood
4	chr2:113486600-113511600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:113488200-113507400	Weak transcription	Spleen	Spleen
6	chr2:113491000-113520800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:113491800-113507200	Weak transcription	Fetal Brain Female	brain
8	chr2:113492200-113512000	Weak transcription	Fetal Heart	heart
9	chr2:113492400-113507600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:113494200-113507400	Strong transcription	Fetal Thymus	thymus
11	chr2:113494200-113519600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:113494400-113521000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:113494800-113507000	Strong transcription	Dnd41	blood
14	chr2:113494800-113520000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:113495800-113521400	Weak transcription	Small Intestine	intestine
16	chr2:113496000-113521200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:113496000-113521200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:113496200-113507400	Weak transcription	Primary T cells from cord blood	blood
19	chr2:113496200-113508800	Strong transcription	A549	lung
20	chr2:113496800-113509800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:113496800-113520800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:113498000-113507400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:113498600-113507600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:113498800-113513800	Weak transcription	Fetal Lung	lung
25	chr2:113499000-113507600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:113499000-113511400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:113499000-113511400	Weak transcription	Gastric	stomach
28	chr2:113499200-113507400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:113499200-113507400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:113499200-113507400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:113499200-113507400	Weak transcription	Brain Germinal Matrix	brain
32	chr2:113499200-113507600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:113499200-113508800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:113499200-113509400	Weak transcription	Fetal Kidney	kidney
35	chr2:113499200-113512000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr2:113499800-113507400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:113500000-113511400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr2:113500200-113507000	Weak transcription	NHLF	lung
39	chr2:113500200-113511000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:113500200-113521200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:113500400-113511400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr2:113501800-113507000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:113501800-113507000	Strong transcription	HepG2	liver
44	chr2:113502400-113507400	Weak transcription	Fetal Stomach	stomach
45	chr2:113502400-113507400	Weak transcription	Thymus	Thymus
46	chr2:113502400-113507600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:113502400-113507600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr2:113502400-113508000	Weak transcription	Fetal Intestine Large	intestine
49	chr2:113502400-113509400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr2:113502800-113507400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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