Variant report

Variant	rs2323011
Chromosome Location	chr4:144281402-144281403
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:144280022..144283375-chr4:144285064..144288406,3	K562	blood:
2	chr4:144279254..144282177-chr4:144295139..144296728,2	MCF-7	breast:
3	chr4:144272912..144279199-chr4:144279482..144284125,11	K562	blood:
4	chr4:144264438..144268402-chr4:144278355..144282865,4	K562	blood:
5	chr4:144275276..144278433-chr4:144281060..144283410,4	MCF-7	breast:
6	chr4:144127423..144129387-chr4:144280177..144281782,2	K562	blood:
7	chr4:144256496..144258835-chr4:144281268..144283636,2	MCF-7	breast:
8	chr4:144279896..144282516-chr4:144316177..144318703,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000109458	Chromatin interaction
ENSG00000265623	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10155329	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs10598	0.85[AMR][1000 genomes]
rs17017745	1.00[CEU][hapmap]
rs2661788	1.00[CEU][hapmap]
rs2666350	1.00[CEU][hapmap]
rs28925882	0.82[AFR][1000 genomes]
rs28925887	0.82[AFR][1000 genomes]
rs28989215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28989221	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28989224	1.00[EUR][1000 genomes]
rs28989225	1.00[EUR][1000 genomes]
rs28989230	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62337486	0.89[EUR][1000 genomes]
rs62337489	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62337511	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62337512	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62337513	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62337514	0.89[EUR][1000 genomes]
rs62337515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62337516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62337517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62337518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62337519	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62337524	1.00[EUR][1000 genomes]
rs62337525	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62337526	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62337527	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62337528	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62337529	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62337530	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62337531	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62337532	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6828635	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs745164	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1026110	chr4:144239825-144292148	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144272800-144284600	Enhancers	Fetal Intestine Small	intestine
2	chr4:144272800-144299800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:144275800-144283000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:144276200-144283000	Enhancers	HMEC	breast
5	chr4:144276400-144286000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:144276800-144284800	Weak transcription	Lung	lung
7	chr4:144277000-144282600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:144277000-144282800	Enhancers	Fetal Lung	lung
9	chr4:144277200-144281800	Weak transcription	HSMM	muscle
10	chr4:144277200-144284000	Enhancers	Fetal Intestine Large	intestine
11	chr4:144277200-144290400	Weak transcription	Pancreas	Pancrea
12	chr4:144277400-144296800	Weak transcription	HSMMtube	muscle
13	chr4:144278000-144282200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:144278200-144285400	Enhancers	Fetal Heart	heart
15	chr4:144279000-144283600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:144279600-144281600	Enhancers	Brain Angular Gyrus	brain
17	chr4:144279600-144282600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:144279600-144283000	Enhancers	NHDF-Ad	bronchial
19	chr4:144279600-144284200	Enhancers	Brain Anterior Caudate	brain
20	chr4:144279800-144283400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr4:144279800-144286000	Enhancers	Brain Cingulate Gyrus	brain
22	chr4:144280000-144281600	Enhancers	NH-A	brain
23	chr4:144280000-144282800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr4:144280000-144283000	Enhancers	Adipose Nuclei	Adipose
25	chr4:144280000-144283200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr4:144280000-144283400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr4:144280200-144281600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:144280200-144285400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr4:144280400-144281600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:144280400-144282800	Weak transcription	Brain Germinal Matrix	brain
31	chr4:144280400-144284400	Enhancers	Colon Smooth Muscle	Colon
32	chr4:144280400-144285600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:144280600-144283000	Enhancers	Osteobl	bone
34	chr4:144280800-144281800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:144280800-144281800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr4:144280800-144282200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr4:144280800-144282400	Enhancers	HUVEC	blood vessel
38	chr4:144280800-144283000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:144280800-144283000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr4:144280800-144283800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr4:144280800-144286000	Enhancers	Brain Hippocampus Middle	brain
42	chr4:144281000-144281600	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr4:144281000-144282200	Weak transcription	Liver	Liver
44	chr4:144281000-144282200	Weak transcription	Colonic Mucosa	Colon
45	chr4:144281000-144282200	Weak transcription	Ovary	ovary
46	chr4:144281000-144282400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:144281000-144282600	Weak transcription	Esophagus	oesophagus
48	chr4:144281000-144282800	Weak transcription	Right Ventricle	heart
49	chr4:144281000-144283000	Enhancers	Primary hematopoietic stem cells	blood
50	chr4:144281000-144283000	Enhancers	Duodenum Smooth Muscle	Duodenum

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