Variant report

Variant	rs62148882
Chromosome Location	chr2:33499709-33499710
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAL1	chr2:33499614-33499907	K562	blood:	n/a	n/a
2	POLR2A	chr2:33499513-33500268	SK-N-SH	brain:	n/a	n/a
3	REST	chr2:33499628-33499898	K562	blood:	n/a	n/a
4	TEAD4	chr2:33499548-33499947	K562	blood:	n/a	n/a
5	RCOR1	chr2:33499586-33499933	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33491437..33494514-chr2:33496533..33499773,3	K562	blood:

Variant related genes	Relation type
LTBP1	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10169788	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10175557	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10175619	0.81[ASN][1000 genomes]
rs11124313	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11673950	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11684829	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13391131	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13392154	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394195	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17582516	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2603361	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3769540	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3769544	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4233909	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4670387	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4670408	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62148881	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62148927	0.82[AMR][1000 genomes]
rs6543704	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6543705	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6711027	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6739030	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6739506	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6739725	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs711234	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs711235	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs723043	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs749454	0.91[ASN][1000 genomes]
rs7565095	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7586227	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7590205	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7605474	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs817529	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817532	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs817534	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs817536	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs817537	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs817539	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs971793	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[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	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	nsv873791	chr2:33489975-33586776	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33466600-33500800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:33472000-33516600	Weak transcription	Psoas Muscle	Psoas
3	chr2:33487000-33509800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:33487800-33502400	Weak transcription	Brain Anterior Caudate	brain
5	chr2:33490600-33515600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:33491800-33502000	Weak transcription	Brain Angular Gyrus	brain
7	chr2:33491800-33504400	Weak transcription	Colonic Mucosa	Colon
8	chr2:33492000-33515800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:33492200-33501000	Weak transcription	Placenta	Placenta
10	chr2:33492200-33516600	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:33492200-33516600	Weak transcription	Brain Substantia Nigra	brain
12	chr2:33492400-33500000	Weak transcription	Fetal Stomach	stomach
13	chr2:33492400-33500800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:33492400-33500800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:33492400-33500800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:33492400-33500800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:33492400-33500800	Weak transcription	Esophagus	oesophagus
18	chr2:33492400-33500800	Weak transcription	Pancreas	Pancrea
19	chr2:33492400-33501000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:33492400-33501800	Weak transcription	Lung	lung
21	chr2:33492400-33502000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:33492400-33502000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:33492400-33502000	Weak transcription	Spleen	Spleen
24	chr2:33492400-33547400	Weak transcription	Fetal Intestine Small	intestine
25	chr2:33492600-33499800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:33492600-33499800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:33492600-33500800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:33492600-33502000	Weak transcription	Ovary	ovary
29	chr2:33492600-33508400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:33493400-33502000	Weak transcription	Fetal Brain Male	brain
31	chr2:33493600-33515200	Weak transcription	Fetal Lung	lung
32	chr2:33493800-33503400	Weak transcription	Fetal Brain Female	brain
33	chr2:33493800-33515400	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:33494000-33500200	Weak transcription	HUVEC	blood vessel
35	chr2:33494000-33502000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:33494200-33506200	Weak transcription	Fetal Heart	heart
37	chr2:33494200-33516000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr2:33494200-33516200	Weak transcription	Fetal Kidney	kidney
39	chr2:33494600-33515200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:33495400-33499800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:33496200-33500200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:33496200-33501000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:33496600-33500800	Weak transcription	A549	lung
44	chr2:33497200-33500200	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr2:33497600-33500800	Weak transcription	NHDF-Ad	bronchial
46	chr2:33497600-33500800	Strong transcription	Osteobl	bone
47	chr2:33497800-33499800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:33497800-33499800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:33497800-33500800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:33497800-33503400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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