Variant report

Variant	rs2196909
Chromosome Location	chr4:144281926-144281927
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	chr4:144256496..144258835-chr4:144281268..144283636,2	MCF-7	breast:
7	chr4:144279896..144282516-chr4:144316177..144318703,2	K562	blood:
8	chr4:144257782..144259357-chr4:144281420..144283250,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000265623	Chromatin interaction
ENSG00000178972	Chromatin interaction
ENSG00000109458	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10013047	0.96[ASN][1000 genomes]
rs1027851	0.86[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1027852	0.96[ASN][1000 genomes]
rs11100786	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11100787	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11100788	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11100789	0.81[ASN][1000 genomes]
rs11730569	0.95[ASN][1000 genomes]
rs11945731	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12647531	0.95[ASN][1000 genomes]
rs12649592	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13101346	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13123498	0.86[CEU][hapmap];0.94[ASN][1000 genomes]
rs1397526	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1397527	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1397528	0.82[ASN][1000 genomes]
rs1472873	0.95[ASN][1000 genomes]
rs1510879	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1510880	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1866756	0.96[ASN][1000 genomes]
rs2048408	0.94[ASN][1000 genomes]
rs2055730	0.95[ASN][1000 genomes]
rs2119270	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2196908	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300910	0.90[ASN][1000 genomes]
rs300911	0.87[ASN][1000 genomes]
rs300912	0.87[ASN][1000 genomes]
rs300913	0.87[ASN][1000 genomes]
rs300914	0.87[ASN][1000 genomes]
rs300915	0.87[ASN][1000 genomes]
rs300916	0.84[ASN][1000 genomes]
rs300917	0.83[ASN][1000 genomes]
rs300918	0.83[ASN][1000 genomes]
rs34095331	0.85[ASN][1000 genomes]
rs34439737	0.89[ASN][1000 genomes]
rs3792652	0.86[CEU][hapmap];0.96[ASN][1000 genomes]
rs3792653	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3792655	0.95[ASN][1000 genomes]
rs3805238	0.84[ASN][1000 genomes]
rs3805245	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3805246	0.95[ASN][1000 genomes]
rs3805247	0.96[ASN][1000 genomes]
rs3805249	0.95[ASN][1000 genomes]
rs3805251	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3805252	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3805253	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3805254	0.95[ASN][1000 genomes]
rs3805256	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805257	0.97[ASN][1000 genomes]
rs3828512	0.86[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3828513	0.95[ASN][1000 genomes]
rs3828514	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55758499	0.95[ASN][1000 genomes]
rs55894236	0.95[ASN][1000 genomes]
rs6537154	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6537155	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs713140	0.93[ASN][1000 genomes]
rs719392	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7679870	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7680959	0.90[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs906571	0.95[ASN][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:97 , 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	chr4:144277200-144284000	Enhancers	Fetal Intestine Large	intestine
10	chr4:144277200-144290400	Weak transcription	Pancreas	Pancrea
11	chr4:144277400-144296800	Weak transcription	HSMMtube	muscle
12	chr4:144278000-144282200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:144278200-144285400	Enhancers	Fetal Heart	heart
14	chr4:144279000-144283600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:144279600-144282600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:144279600-144283000	Enhancers	NHDF-Ad	bronchial
17	chr4:144279600-144284200	Enhancers	Brain Anterior Caudate	brain
18	chr4:144279800-144283400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr4:144279800-144286000	Enhancers	Brain Cingulate Gyrus	brain
20	chr4:144280000-144282800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr4:144280000-144283000	Enhancers	Adipose Nuclei	Adipose
22	chr4:144280000-144283200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr4:144280000-144283400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr4:144280200-144285400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr4:144280400-144282800	Weak transcription	Brain Germinal Matrix	brain
26	chr4:144280400-144284400	Enhancers	Colon Smooth Muscle	Colon
27	chr4:144280400-144285600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:144280600-144283000	Enhancers	Osteobl	bone
29	chr4:144280800-144282200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr4:144280800-144282400	Enhancers	HUVEC	blood vessel
31	chr4:144280800-144283000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:144280800-144283000	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr4:144280800-144283800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr4:144280800-144286000	Enhancers	Brain Hippocampus Middle	brain
35	chr4:144281000-144282200	Weak transcription	Liver	Liver
36	chr4:144281000-144282200	Weak transcription	Colonic Mucosa	Colon
37	chr4:144281000-144282200	Weak transcription	Ovary	ovary
38	chr4:144281000-144282400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:144281000-144282600	Weak transcription	Esophagus	oesophagus
40	chr4:144281000-144282800	Weak transcription	Right Ventricle	heart
41	chr4:144281000-144283000	Enhancers	Primary hematopoietic stem cells	blood
42	chr4:144281000-144283000	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr4:144281000-144283000	Enhancers	NHLF	lung
44	chr4:144281000-144283800	Weak transcription	Right Atrium	heart
45	chr4:144281200-144282000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr4:144281200-144282000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:144281200-144282000	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr4:144281200-144282200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr4:144281200-144282200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:144281200-144282200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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