Variant report

Variant	rs4340702
Chromosome Location	chr3:143713423-143713424
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:143694586..143698442-chr3:143710768..143713586,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs16854404	1.00[EUR][1000 genomes]
rs16854421	1.00[EUR][1000 genomes]
rs16854423	1.00[EUR][1000 genomes]
rs16854803	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16854854	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16854880	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16854888	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16855017	1.00[EUR][1000 genomes]
rs16855023	1.00[EUR][1000 genomes]
rs16855033	1.00[EUR][1000 genomes]
rs16855089	1.00[EUR][1000 genomes]
rs2361212	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56213736	1.00[EUR][1000 genomes]
rs60856776	1.00[EUR][1000 genomes]
rs60882025	1.00[EUR][1000 genomes]
rs61014121	1.00[EUR][1000 genomes]
rs61051212	1.00[EUR][1000 genomes]
rs61185584	1.00[EUR][1000 genomes]
rs6788745	1.00[EUR][1000 genomes]
rs6807009	1.00[EUR][1000 genomes]
rs721573	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72997316	1.00[EUR][1000 genomes]
rs73869032	1.00[EUR][1000 genomes]
rs73871132	1.00[EUR][1000 genomes]
rs73871139	1.00[EUR][1000 genomes]
rs73871145	1.00[EUR][1000 genomes]
rs7610600	1.00[EUR][1000 genomes]
rs7633269	1.00[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	nsv877568	chr3:143621140-143992630	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3365190	chr3:143642195-143925886	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv591922	chr3:143645242-143825439	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143692800-143714200	Weak transcription	Small Intestine	intestine
2	chr3:143693400-143713800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:143694400-143718800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:143694400-143719400	Weak transcription	Hela-S3	cervix
5	chr3:143695600-143716800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr3:143697000-143722800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr3:143697000-143729200	Weak transcription	Aorta	Aorta
8	chr3:143697200-143723000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:143697200-143727800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr3:143698400-143721200	Weak transcription	Fetal Kidney	kidney
11	chr3:143699000-143717000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:143699200-143737600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:143699400-143714000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:143700400-143720400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr3:143702400-143717000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:143702600-143727400	Weak transcription	Pancreas	Pancrea
17	chr3:143703200-143720600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:143703400-143719400	Weak transcription	Placenta	Placenta
19	chr3:143704400-143716200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:143704600-143719600	Weak transcription	Colon Smooth Muscle	Colon
21	chr3:143704600-143725800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:143705600-143722600	Weak transcription	Esophagus	oesophagus
23	chr3:143706000-143715000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr3:143706400-143728000	Weak transcription	Fetal Stomach	stomach
25	chr3:143706600-143714000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr3:143706600-143722600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr3:143706800-143725000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:143707000-143722600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:143707400-143714200	Weak transcription	Brain Anterior Caudate	brain
30	chr3:143707400-143714200	Weak transcription	Brain Substantia Nigra	brain
31	chr3:143707400-143714400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr3:143707400-143714600	Weak transcription	Brain Angular Gyrus	brain
33	chr3:143708000-143713600	Weak transcription	Brain Hippocampus Middle	brain
34	chr3:143708000-143729200	Weak transcription	Ovary	ovary
35	chr3:143708800-143716200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr3:143708800-143717200	Weak transcription	NHEK	skin
37	chr3:143708800-143720400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr3:143708800-143729200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:143709000-143714000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr3:143709000-143714000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr3:143709000-143714200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr3:143709000-143716800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr3:143709000-143720600	Weak transcription	Fetal Muscle Leg	muscle
44	chr3:143709000-143722800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr3:143709000-143723000	Weak transcription	Fetal Intestine Small	intestine
46	chr3:143709000-143724400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr3:143709200-143713800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr3:143709200-143714000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr3:143709200-143715400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr3:143709200-143715800	Weak transcription	Primary monocytes fromperipheralblood	blood

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