Variant report

Variant	rs2361212
Chromosome Location	chr3:143715638-143715639
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:143701901..143703424-chr3:143714628..143717411,2	K562	blood:
2	chr3:143689661..143693066-chr3:143714740..143717172,3	K562	blood:
3	chr3:143691566..143693148-chr3:143715551..143717172,2	K562	blood:

Variant related genes	Relation type
ENSG00000181744	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs16854404	1.00[EUR][1000 genomes]
rs16854421	1.00[EUR][1000 genomes]
rs16854423	1.00[EUR][1000 genomes]
rs16854803	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16854854	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16854880	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16854888	0.91[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]
rs4340702	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]
rs61051212	1.00[EUR][1000 genomes]
rs61185584	1.00[EUR][1000 genomes]
rs6788745	1.00[EUR][1000 genomes]
rs721573	0.90[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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143694400-143718800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:143694400-143719400	Weak transcription	Hela-S3	cervix
3	chr3:143695600-143716800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr3:143697000-143722800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr3:143697000-143729200	Weak transcription	Aorta	Aorta
6	chr3:143697200-143723000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:143697200-143727800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr3:143698400-143721200	Weak transcription	Fetal Kidney	kidney
9	chr3:143699000-143717000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:143699200-143737600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:143700400-143720400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:143702400-143717000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:143702600-143727400	Weak transcription	Pancreas	Pancrea
14	chr3:143703200-143720600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:143703400-143719400	Weak transcription	Placenta	Placenta
16	chr3:143704400-143716200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:143704600-143719600	Weak transcription	Colon Smooth Muscle	Colon
18	chr3:143704600-143725800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:143705600-143722600	Weak transcription	Esophagus	oesophagus
20	chr3:143706400-143728000	Weak transcription	Fetal Stomach	stomach
21	chr3:143706600-143722600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr3:143706800-143725000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:143707000-143722600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:143708000-143729200	Weak transcription	Ovary	ovary
25	chr3:143708800-143716200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr3:143708800-143717200	Weak transcription	NHEK	skin
27	chr3:143708800-143720400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr3:143708800-143729200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:143709000-143716800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr3:143709000-143720600	Weak transcription	Fetal Muscle Leg	muscle
31	chr3:143709000-143722800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr3:143709000-143723000	Weak transcription	Fetal Intestine Small	intestine
33	chr3:143709000-143724400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr3:143709200-143715800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr3:143709200-143716800	Weak transcription	HMEC	breast
36	chr3:143709200-143722600	Weak transcription	Primary B cells from cord blood	blood
37	chr3:143709200-143728000	Weak transcription	NHLF	lung
38	chr3:143709200-143729000	Weak transcription	Fetal Lung	lung
39	chr3:143709400-143723800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:143710400-143719200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr3:143710400-143721400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr3:143710800-143720200	Weak transcription	Liver	Liver
43	chr3:143711000-143723800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr3:143712000-143728600	Weak transcription	Left Ventricle	heart
45	chr3:143712200-143726600	Weak transcription	Primary T cells from cord blood	blood
46	chr3:143712400-143723000	Weak transcription	Fetal Intestine Large	intestine
47	chr3:143712800-143716800	Weak transcription	HSMMtube	muscle
48	chr3:143712800-143727400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:143713200-143716600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr3:143713200-143718400	Weak transcription	Fetal Thymus	thymus

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