Variant report

Variant	rs72868447
Chromosome Location	chr2:36792820-36792821
allele	C/G
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	POLR2A	chr2:36790059-36793180	IMR90	lung:	n/a	n/a
2	POLR2A	chr2:36790119-36793066	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:36789949-36793343	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr2:36790098-36793260	A549	lung:	n/a	n/a
5	FOS	chr2:36792808-36793246	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr2:36791432-36793322	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr2:36791453-36793148	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36772254..36773765-chr2:36791620..36793561,2	K562	blood:

Variant related genes	Relation type
FEZ2	TF binding region

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12615583	0.97[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12615713	0.96[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs17019091	0.90[ASN][1000 genomes]
rs17019115	0.80[ASN][1000 genomes]
rs3770800	0.92[ASN][1000 genomes]
rs3770801	0.92[ASN][1000 genomes]
rs73923036	0.80[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	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36751000-36824200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:36771400-36802800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:36773000-36811200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:36776600-36804800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:36776600-36804800	Weak transcription	Fetal Brain Female	brain
6	chr2:36777400-36795000	Weak transcription	Fetal Heart	heart
7	chr2:36779400-36805000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:36780000-36804800	Weak transcription	Brain Germinal Matrix	brain
9	chr2:36782000-36805400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:36782600-36798400	Weak transcription	Gastric	stomach
11	chr2:36782800-36799600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:36783000-36800600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:36783200-36805000	Weak transcription	K562	blood
14	chr2:36783400-36805000	Weak transcription	GM12878-XiMat	blood
15	chr2:36783800-36794200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:36784800-36799200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:36785200-36800600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr2:36786400-36794200	Strong transcription	Primary T cells from cord blood	blood
19	chr2:36786400-36794800	Strong transcription	Primary B cells from cord blood	blood
20	chr2:36786600-36793200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:36787200-36797600	Weak transcription	Fetal Lung	lung
22	chr2:36788600-36805200	Weak transcription	Left Ventricle	heart
23	chr2:36788800-36794000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:36789000-36804800	Weak transcription	Fetal Kidney	kidney
25	chr2:36789200-36793000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:36789200-36803800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:36789200-36807000	Weak transcription	Aorta	Aorta
28	chr2:36789800-36793200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr2:36789800-36795600	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:36790200-36798000	Genic enhancers	HSMM	muscle
31	chr2:36790200-36818000	Strong transcription	Fetal Intestine Large	intestine
32	chr2:36790400-36793000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr2:36790400-36793200	Enhancers	Psoas Muscle	Psoas
34	chr2:36790400-36793400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr2:36790400-36794400	Strong transcription	Fetal Stomach	stomach
36	chr2:36790400-36795600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr2:36790400-36806600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:36790600-36794200	Weak transcription	Ovary	ovary
39	chr2:36790600-36794400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr2:36790600-36794600	Genic enhancers	Muscle Satellite Cultured Cells	--
41	chr2:36790600-36795600	Weak transcription	Stomach Mucosa	stomach
42	chr2:36790800-36794600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:36790800-36795600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:36790800-36796000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:36790800-36800200	Weak transcription	Liver	Liver
46	chr2:36790800-36812000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr2:36791000-36794400	Strong transcription	Fetal Muscle Leg	muscle
48	chr2:36791000-36795000	Genic enhancers	A549	lung
49	chr2:36791000-36807600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:36791200-36793000	Strong transcription	Sigmoid Colon	Sigmoid Colon

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