Variant report

Variant	rs13147854
Chromosome Location	chr4:148800299-148800300
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10013038	1.00[EUR][1000 genomes]
rs10022144	1.00[EUR][1000 genomes]
rs1036441	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10519918	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11723235	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11725005	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17023992	0.86[ASN][1000 genomes]
rs17024085	0.87[ASN][1000 genomes]
rs2118034	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2358179	0.87[ASN][1000 genomes]
rs4240340	1.00[EUR][1000 genomes]
rs4240342	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4527458	0.87[ASN][1000 genomes]
rs4529033	0.87[ASN][1000 genomes]
rs4835102	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4835104	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4835107	0.81[AFR][1000 genomes]
rs4835108	0.87[ASN][1000 genomes]
rs4835462	1.00[EUR][1000 genomes]
rs4835465	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4835467	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6535564	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6535566	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6851336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6852320	1.00[EUR][1000 genomes]
rs6853610	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955571	1.00[EUR][1000 genomes]
rs7435763	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7654818	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7661267	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7687859	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7700162	1.00[EUR][1000 genomes]
rs893030	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148768400-148815600	Weak transcription	Primary T cells from cord blood	blood
2	chr4:148772000-148806000	Weak transcription	Fetal Thymus	thymus
3	chr4:148777000-148823000	Weak transcription	Small Intestine	intestine
4	chr4:148784400-148810800	Weak transcription	Fetal Heart	heart
5	chr4:148786000-148804000	Weak transcription	Psoas Muscle	Psoas
6	chr4:148786000-148861400	Weak transcription	Pancreas	Pancrea
7	chr4:148787400-148800400	Weak transcription	NHEK	skin
8	chr4:148787600-148801600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:148788800-148803200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:148789800-148805800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:148790400-148805200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:148790600-148805800	Weak transcription	NHLF	lung
13	chr4:148791600-148804400	Weak transcription	Fetal Intestine Small	intestine
14	chr4:148794800-148810200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr4:148794800-148824600	Weak transcription	A549	lung
16	chr4:148796000-148809600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr4:148796200-148800400	Strong transcription	GM12878-XiMat	blood
18	chr4:148796800-148804400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:148796800-148804400	Weak transcription	Aorta	Aorta
20	chr4:148796800-148805600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr4:148796800-148805800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr4:148796800-148808200	Weak transcription	Lung	lung
23	chr4:148796800-148812800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:148796800-148863200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:148796800-148866000	Weak transcription	Thymus	Thymus
26	chr4:148797000-148806400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr4:148797000-148812000	Weak transcription	Fetal Kidney	kidney
28	chr4:148797000-148834200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr4:148797000-148835800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:148797200-148806400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:148797400-148800400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:148797400-148801000	Weak transcription	HMEC	breast
33	chr4:148797400-148801200	Weak transcription	NHDF-Ad	bronchial
34	chr4:148797400-148802200	Weak transcription	Fetal Muscle Leg	muscle
35	chr4:148797400-148802600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr4:148797400-148803400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr4:148797400-148804000	Weak transcription	Fetal Intestine Large	intestine
38	chr4:148797400-148804400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr4:148797400-148804400	Weak transcription	Esophagus	oesophagus
40	chr4:148797400-148805600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:148797400-148805800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:148797400-148805800	Weak transcription	Left Ventricle	heart
43	chr4:148797400-148808000	Weak transcription	HUVEC	blood vessel
44	chr4:148797400-148810000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr4:148797400-148812400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr4:148797400-148814400	Weak transcription	NH-A	brain
47	chr4:148797400-148815400	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr4:148797400-148879600	Weak transcription	Gastric	stomach
49	chr4:148797600-148800800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:148797600-148810000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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