Variant report

Variant	rs56156729
Chromosome Location	chr2:32146160-32146161
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	chr2:32146028-32146305	K562	blood:	n/a	n/a
2	EP300	chr2:32146126-32146328	K562	blood:	n/a	n/a
3	GATA3	chr2:32145998-32146382	SH-SY5Y	brain:	n/a	chr2:32146037-32146048

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:32136546..32142489-chr2:32145658..32148924,5	K562	blood:

Variant related genes	Relation type
ENSG00000221326	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13392496	1.00[AFR][1000 genomes]
rs62142082	1.00[AFR][1000 genomes]
rs62142085	1.00[AFR][1000 genomes]
rs72796805	0.90[EUR][1000 genomes]
rs72796814	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72796828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv873777	chr2:32019747-32197123	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32061600-32172800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:32075800-32170000	Weak transcription	Aorta	Aorta
3	chr2:32086600-32174400	Weak transcription	NHLF	lung
4	chr2:32088000-32157600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:32089400-32160000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:32099600-32193000	Weak transcription	Hela-S3	cervix
7	chr2:32100800-32147800	Weak transcription	Spleen	Spleen
8	chr2:32105400-32146600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:32107200-32167600	Weak transcription	Left Ventricle	heart
10	chr2:32114400-32153800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:32116200-32173000	Weak transcription	HSMMtube	muscle
12	chr2:32116800-32148000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:32116800-32166200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:32116800-32169400	Weak transcription	Small Intestine	intestine
15	chr2:32116800-32182200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:32117000-32205200	Weak transcription	NH-A	brain
17	chr2:32118600-32170600	Weak transcription	Gastric	stomach
18	chr2:32119200-32181400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:32119800-32146400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:32122600-32146400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:32124000-32146400	Weak transcription	Brain Substantia Nigra	brain
22	chr2:32124400-32146600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:32126200-32170400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr2:32127400-32147000	Weak transcription	Right Ventricle	heart
25	chr2:32127400-32151400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:32127400-32160400	Weak transcription	Thymus	Thymus
27	chr2:32127400-32190200	Weak transcription	Lung	lung
28	chr2:32127600-32151200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:32127600-32152200	Weak transcription	Fetal Brain Female	brain
30	chr2:32127600-32156000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:32127600-32165600	Weak transcription	Dnd41	blood
32	chr2:32127800-32147000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:32127800-32154600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr2:32127800-32169800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr2:32128000-32151000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:32128400-32170200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:32130200-32165800	Weak transcription	Esophagus	oesophagus
38	chr2:32132400-32183000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:32133600-32157200	Weak transcription	HUVEC	blood vessel
40	chr2:32133800-32157600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:32134000-32147600	Weak transcription	GM12878-XiMat	blood
42	chr2:32134000-32148200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:32134200-32151000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:32134200-32159200	Weak transcription	Primary T cells from cord blood	blood
45	chr2:32134200-32167600	Weak transcription	Brain Germinal Matrix	brain
46	chr2:32134600-32166800	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:32135200-32146200	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr2:32135600-32152000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr2:32136000-32147400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:32136600-32188800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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