Variant report

Variant	rs2177812
Chromosome Location	chr3:119221948-119221949
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119219516..119223386-chr3:119224346..119229091,6	K562	blood:
2	chr3:119219701..119222345-chr3:119233370..119236233,2	K562	blood:
3	chr3:119220229..119222944-chr3:119393933..119395853,2	K562	blood:
4	chr3:119181035..119182773-chr3:119221780..119224336,2	MCF-7	breast:
5	chr3:119220784..119223017-chr3:119241149..119243066,2	K562	blood:
6	chr3:119217626..119220478-chr3:119221434..119223355,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176142	Chromatin interaction
ENSG00000138495	Chromatin interaction
ENSG00000113845	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1060569	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13080905	0.94[ASN][1000 genomes]
rs1797839	0.91[ASN][1000 genomes]
rs1900742	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1919586	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1919590	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1967621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1976919	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030816	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3732413	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3814397	0.91[ASN][1000 genomes]
rs4687855	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4687860	0.94[ASN][1000 genomes]
rs4688005	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4688007	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4688008	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4688012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4688014	0.89[ASN][1000 genomes]
rs6414282	0.91[ASN][1000 genomes]
rs6414283	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6438528	0.94[ASN][1000 genomes]
rs6438529	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6438530	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6438531	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6438535	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6777535	0.94[ASN][1000 genomes]
rs6778945	0.92[ASN][1000 genomes]
rs6794822	0.91[ASN][1000 genomes]
rs6796970	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs727905	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7430798	0.94[ASN][1000 genomes]
rs7621259	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7628626	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7630587	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7642502	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289129	0.94[ASN][1000 genomes]
rs9809155	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9836326	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9836627	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9850447	0.92[ASN][1000 genomes]
rs9867768	0.92[ASN][1000 genomes]
rs9873196	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9874480	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9877854	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers 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	61 gene(s)	inside rSNPs	diseases
3	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 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	chr3:119218000-119224400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:119218000-119225000	Weak transcription	Gastric	stomach
3	chr3:119218000-119231800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:119218000-119236600	Weak transcription	Aorta	Aorta
5	chr3:119218600-119222800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr3:119218600-119223000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr3:119218600-119224600	Weak transcription	Brain Germinal Matrix	brain
8	chr3:119218600-119225000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:119218600-119225000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:119218600-119225000	Weak transcription	Lung	lung
11	chr3:119218600-119231800	Weak transcription	Spleen	Spleen
12	chr3:119218600-119234400	Weak transcription	Colonic Mucosa	Colon
13	chr3:119218600-119236600	Weak transcription	Esophagus	oesophagus
14	chr3:119218800-119225000	Weak transcription	Thymus	Thymus
15	chr3:119218800-119233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr3:119219000-119222000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr3:119219000-119222200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:119219000-119222400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr3:119219000-119222600	Weak transcription	Primary B cells from cord blood	blood
20	chr3:119219000-119222600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:119219000-119222800	Weak transcription	Fetal Muscle Leg	muscle
22	chr3:119219000-119224600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr3:119219000-119235800	Weak transcription	Fetal Kidney	kidney
24	chr3:119219400-119236800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:119219600-119224000	Weak transcription	NHDF-Ad	bronchial
26	chr3:119219600-119237000	Weak transcription	Small Intestine	intestine
27	chr3:119219800-119222000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr3:119219800-119222600	Weak transcription	NH-A	brain
29	chr3:119219800-119222800	Weak transcription	Brain Angular Gyrus	brain
30	chr3:119219800-119224600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr3:119219800-119228000	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr3:119219800-119231000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr3:119219800-119232000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:119219800-119232000	Weak transcription	Brain Substantia Nigra	brain
35	chr3:119219800-119233600	Weak transcription	Ovary	ovary
36	chr3:119219800-119235800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr3:119219800-119239200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr3:119220000-119222000	Weak transcription	Primary T cells from cord blood	blood
39	chr3:119220000-119222000	Weak transcription	HMEC	breast
40	chr3:119220000-119222200	Weak transcription	Hela-S3	cervix
41	chr3:119220000-119222400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr3:119220000-119222400	Weak transcription	HSMM	muscle
43	chr3:119220000-119222600	Weak transcription	Fetal Lung	lung
44	chr3:119220000-119222600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr3:119220000-119222800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:119220000-119222800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:119220000-119222800	Weak transcription	Colon Smooth Muscle	Colon
48	chr3:119220000-119223000	Weak transcription	Right Ventricle	heart
49	chr3:119220000-119223000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr3:119220000-119223000	Weak transcription	Stomach Smooth Muscle	stomach

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