Variant report

Variant	rs4683606
Chromosome Location	chr3:141110074-141110075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:141105739..141107657-chr3:141108132..141110695,3	K562	blood:
2	chr3:141105998..141108127-chr3:141109213..141112291,3	MCF-7	breast:
3	chr3:141088058..141090962-chr3:141109118..141111165,3	K562	blood:
4	chr3:141086200..141088543-chr3:141107972..141110078,2	K562	blood:
5	chr3:141100225..141102458-chr3:141109602..141112183,2	K562	blood:

Variant related genes	Relation type
ENSG00000177311	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs13068733	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13077048	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1344672	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1344674	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1582874	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1991431	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2871960	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683605	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57345461	1.00[ASN][1000 genomes]
rs58473751	1.00[ASN][1000 genomes]
rs6440003	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6440006	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6763927	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6763931	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6764769	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6785012	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6808936	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs724016	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7624084	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7625643	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7632381	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7650602	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9846396	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9853018	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9856584	0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829744	chr3:141016749-141189168	Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141089200-141115800	Weak transcription	Psoas Muscle	Psoas
2	chr3:141094800-141112200	Weak transcription	Spleen	Spleen
3	chr3:141096000-141111000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:141098600-141115200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:141099000-141110400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:141100600-141112400	Weak transcription	Lung	lung
7	chr3:141102800-141111800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:141102800-141112000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:141103200-141111000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:141103600-141110200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:141105200-141110200	Weak transcription	Fetal Heart	heart
12	chr3:141105800-141110200	Weak transcription	Right Atrium	heart
13	chr3:141105800-141111200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:141106000-141110200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:141106000-141110200	Weak transcription	Fetal Kidney	kidney
16	chr3:141106000-141111000	Weak transcription	Gastric	stomach
17	chr3:141106000-141112200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr3:141106000-141115400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr3:141106000-141115800	Weak transcription	Right Ventricle	heart
20	chr3:141106000-141117000	Strong transcription	Fetal Intestine Large	intestine
21	chr3:141106000-141119000	Weak transcription	Colonic Mucosa	Colon
22	chr3:141106400-141110200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:141106600-141110200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:141106600-141111400	Weak transcription	Fetal Stomach	stomach
25	chr3:141106600-141113600	Weak transcription	K562	blood
26	chr3:141106800-141110200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr3:141106800-141110200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr3:141106800-141110800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:141106800-141111200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr3:141106800-141111200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr3:141106800-141111800	Weak transcription	Placenta	Placenta
32	chr3:141106800-141114800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr3:141106800-141119200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr3:141108000-141110200	Weak transcription	Aorta	Aorta
35	chr3:141108000-141110200	Weak transcription	Pancreas	Pancrea
36	chr3:141108000-141110200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr3:141108000-141111400	Weak transcription	Esophagus	oesophagus
38	chr3:141108000-141112000	Weak transcription	HSMMtube	muscle
39	chr3:141108000-141115200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr3:141108000-141116000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr3:141108200-141110200	Weak transcription	Ovary	ovary
42	chr3:141108200-141111200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:141108200-141111200	Weak transcription	Stomach Mucosa	stomach
44	chr3:141108200-141112000	Weak transcription	HMEC	breast
45	chr3:141108200-141112400	Strong transcription	HSMM	muscle
46	chr3:141108200-141113200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:141108200-141115200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr3:141108400-141110400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr3:141108400-141114600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr3:141108400-141115400	Weak transcription	Liver	Liver

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