Variant report

Variant	rs4683398
Chromosome Location	chr3:140986153-140986154
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:140984792..140987604-chr3:140994461..140996447,2	K562	blood:
2	chr3:140985576..140987715-chr3:140988575..140990710,3	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11715472	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1511376	0.81[CEU][hapmap]
rs1511377	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1511378	0.82[CEU][hapmap]
rs1877219	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs1993904	0.82[CEU][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2311734	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4683588	0.88[CEU][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4683592	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6439990	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs6439993	0.89[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6803258	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs6803826	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs899349	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9289627	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs9841326	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9878866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9880195	0.94[CEU][hapmap];0.86[AMR][1000 genomes];0.83[EUR][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	nsv460870	chr3:140938546-141005574	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv591892	chr3:140938546-141005574	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv877551	chr3:140970556-141029860	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr3:140957400-141001000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:140959200-140998400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr3:140961200-141012600	Weak transcription	Aorta	Aorta
4	chr3:140966000-140990200	Weak transcription	Psoas Muscle	Psoas
5	chr3:140968200-140990000	Weak transcription	Gastric	stomach
6	chr3:140974800-140987400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:140974800-140991400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:140975000-140993400	Weak transcription	Lung	lung
9	chr3:140975000-140993400	Weak transcription	Spleen	Spleen
10	chr3:140975200-140991800	Weak transcription	Placenta	Placenta
11	chr3:140975400-140990200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr3:140975800-140993200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:140976400-140987200	Weak transcription	Fetal Brain Male	brain
14	chr3:140977800-140990000	Weak transcription	Liver	Liver
15	chr3:140978000-140998000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr3:140978200-140993600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:140978800-140986200	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:140978800-140988000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr3:140978800-140993000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr3:140979000-141000800	Weak transcription	Fetal Kidney	kidney
21	chr3:140979000-141013200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr3:140979400-140986600	Weak transcription	Colon Smooth Muscle	Colon
23	chr3:140979800-140992800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:140980200-140987600	Weak transcription	Pancreas	Pancrea
25	chr3:140980800-141005600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr3:140981000-140998400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr3:140981200-141013200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr3:140981200-141013400	Weak transcription	Colonic Mucosa	Colon
29	chr3:140981400-141001000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr3:140981600-140992000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:140981600-140993200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr3:140983000-140992000	Weak transcription	Brain Angular Gyrus	brain
33	chr3:140983200-140990000	Weak transcription	Fetal Intestine Large	intestine
34	chr3:140983600-141021600	Weak transcription	Esophagus	oesophagus
35	chr3:140983800-140993000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:140984000-140997400	Weak transcription	Fetal Brain Female	brain
37	chr3:140984200-141000800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr3:140984400-140988800	Weak transcription	Right Ventricle	heart
39	chr3:140984400-140990000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:140984400-140990200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr3:140984400-140992600	Weak transcription	Fetal Muscle Leg	muscle
42	chr3:140984600-140997600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:140984800-140986600	Flanking Active TSS	Dnd41	blood
44	chr3:140984800-140990600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr3:140984800-141006400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr3:140985000-140987200	Weak transcription	Brain Germinal Matrix	brain
47	chr3:140985000-140987600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:140985200-140986200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr3:140985200-140986600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:140985200-140987000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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