Variant report

Variant	rs4145831
Chromosome Location	chr2:33700305-33700306
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	RELA	chr2:33700211-33702190	GM18526	blood:	n/a	n/a
2	FOXM1	chr2:33700303-33702187	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:33700152-33705186	GM19099	blood:	n/a	n/a
4	RELA	chr2:33700209-33705022	GM10847	blood:	n/a	n/a
5	MTA3	chr2:33700107-33705192	GM12878	blood:	n/a	n/a
6	PML	chr2:33700257-33705210	GM12878	blood:	n/a	n/a
7	RUNX3	chr2:33700294-33702198	GM12878	blood:	n/a	n/a
8	MAFK	chr2:33700113-33700443	HepG2	liver:	n/a	chr2:33700263-33700278 chr2:33700264-33700275
9	MEF2A	chr2:33700274-33701174	GM12878	blood:	n/a	n/a
10	CTCF	chr2:33700171-33702235	A549	lung:	n/a	chr2:33701309-33701317
11	MAFF	chr2:33700128-33700407	HepG2	liver:	n/a	chr2:33700261-33700279
12	POLR2A	chr2:33700303-33705222	GM18505	blood:	n/a	n/a
13	NFIC	chr2:33700260-33704509	GM12878	blood:	n/a	n/a
14	ATF2	chr2:33700215-33702042	GM12878	blood:	n/a	n/a
15	BHLHE40	chr2:33700260-33703171	GM12878	blood:	n/a	n/a
16	RCOR1	chr2:33700211-33702249	IMR90	lung:	n/a	n/a
17	MAFK	chr2:33700180-33700368	HepG2	liver:	n/a	chr2:33700263-33700278 chr2:33700264-33700275

Variant related genes	Relation type
RASGRP3	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10185666	0.84[EUR][1000 genomes]
rs11124317	0.81[MEX][hapmap]
rs11124318	0.85[EUR][1000 genomes]
rs11124320	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs2054132	0.90[MEX][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6731587	0.85[MEX][hapmap];0.82[EUR][1000 genomes]
rs7569172	0.84[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	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
2	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
3	nsv873792	chr2:33682737-33715742	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33695600-33700600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:33697800-33700400	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr2:33698800-33700400	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr2:33699200-33700600	Weak transcription	Right Ventricle	heart
5	chr2:33699200-33701000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:33699600-33700400	Enhancers	Fetal Heart	heart
7	chr2:33699600-33700400	Enhancers	Fetal Muscle Leg	muscle
8	chr2:33699800-33700400	Enhancers	Dnd41	blood
9	chr2:33699800-33700600	Weak transcription	Left Ventricle	heart
10	chr2:33700000-33700400	Flanking Active TSS	GM12878-XiMat	blood
11	chr2:33700000-33700600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr2:33700000-33700600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:33700000-33700600	Weak transcription	Psoas Muscle	Psoas
14	chr2:33700200-33700400	Enhancers	Primary T cells from cord blood	blood
15	chr2:33700200-33700400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr2:33700200-33700600	Enhancers	Primary hematopoietic stem cells	blood
17	chr2:33700200-33700600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:33700200-33700600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr2:33700200-33700600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:33700200-33700600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr2:33700200-33700600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:33700200-33700600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:33700200-33700600	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr2:33700200-33700600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:33700200-33700600	Enhancers	Brain Cingulate Gyrus	brain
26	chr2:33700200-33700600	Enhancers	HUVEC	blood vessel
27	chr2:33700200-33700600	Enhancers	NHDF-Ad	bronchial
28	chr2:33700200-33700800	Enhancers	Primary B cells from peripheral blood	blood

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