Variant report

Variant	rs73979518
Chromosome Location	chr2:178544747-178544748
allele	A/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	ARID3A	chr2:178544614-178545268	K562	blood:	n/a	n/a
2	RCOR1	chr2:178544567-178545377	K562	blood:	n/a	n/a
3	EP300	chr2:178544577-178545316	K562	blood:	n/a	n/a
4	CCNT2	chr2:178544654-178545350	K562	blood:	n/a	chr2:178545114-178545134
5	GATA1	chr2:178544634-178545326	PBDE	blood:	n/a	chr2:178545116-178545125 chr2:178545116-178545123 chr2:178545115-178545125 chr2:178545117-178545134
6	TAL1	chr2:178544645-178545296	K562	blood:	n/a	n/a
7	TEAD4	chr2:178544558-178545320	K562	blood:	n/a	n/a
8	MAX	chr2:178544641-178545167	K562	blood:	n/a	n/a
9	BHLHE40	chr2:178544674-178545243	K562	blood:	n/a	n/a
10	MYC	chr2:178544649-178545279	K562	blood:	n/a	n/a
11	MAZ	chr2:178544550-178545287	K562	blood:	n/a	n/a
12	ZMIZ1	chr2:178544639-178545234	K562	blood:	n/a	n/a
13	TBL1XR1	chr2:178544592-178545296	K562	blood:	n/a	n/a
14	RCOR1	chr2:178544505-178545307	K562	blood:	n/a	n/a
15	CUX1	chr2:178544745-178545235	K562	blood:	n/a	n/a
16	TBP	chr2:178544712-178544912	K562	blood:	n/a	n/a
17	JUND	chr2:178544607-178545270	K562	blood:	n/a	n/a
18	ZNF384	chr2:178544607-178544845	K562	blood:	n/a	n/a
19	MYC	chr2:178544662-178545170	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178540518..178542600-chr2:178544661..178547619,2	MCF-7	breast:

Variant related genes	Relation type
PDE11A	TF binding region
ENSG00000128655	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs59259791	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979513	0.93[AFR][1000 genomes]
rs73979517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979519	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9679360	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv431812	chr2:178525371-178584470	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1007925	chr2:178535922-178577002	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178535000-178544800	Weak transcription	Right Atrium	heart
2	chr2:178536600-178556000	Weak transcription	Pancreas	Pancrea
3	chr2:178540000-178547400	Enhancers	Fetal Kidney	kidney
4	chr2:178541400-178544800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:178541400-178545000	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:178541600-178544800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:178541800-178544800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:178543400-178544800	Enhancers	Fetal Intestine Large	intestine
9	chr2:178543400-178546400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr2:178543800-178545000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr2:178544000-178548000	Enhancers	K562	blood
12	chr2:178544200-178545000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:178544400-178545000	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr2:178544400-178545200	Enhancers	Adipose Nuclei	Adipose
15	chr2:178544600-178545000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:178544600-178545000	Enhancers	Fetal Muscle Leg	muscle
17	chr2:178544600-178545000	Enhancers	Psoas Muscle	Psoas
18	chr2:178544600-178545200	Enhancers	Fetal Stomach	stomach
19	chr2:178544600-178545200	Enhancers	Ovary	ovary
20	chr2:178544600-178545400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:178544600-178545400	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr2:178544600-178546800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:178544600-178552600	Weak transcription	Fetal Intestine Small	intestine

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