Variant report

Variant	rs72787707
Chromosome Location	chr2:30453246-30453247
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	ESRRA	chr2:30452601-30456906	GM12878	blood:	n/a	chr2:30456698-30456707
2	MAZ	chr2:30453150-30456799	IMR90	lung:	n/a	chr2:30454329-30454339 chr2:30454901-30454920 chr2:30454054-30454064
3	MXI1	chr2:30453058-30457443	SK-N-SH	brain:	n/a	n/a
4	RAD21	chr2:30452917-30456037	SK-N-SH	brain:	n/a	chr2:30454258-30454271 chr2:30453804-30453816 chr2:30454900-30454910
5	REST	chr2:30453172-30455507	H1-neurons	neurons:	n/a	chr2:30453631-30453649 chr2:30453642-30453655 chr2:30454097-30454110 chr2:30454675-30454688 chr2:30453921-30453934 chr2:30453992-30454005
6	POLR2A	chr2:30452975-30459369	IMR90	lung:	n/a	n/a
7	MXI1	chr2:30453227-30457524	IMR90	lung:	n/a	n/a
8	TAF1	chr2:30453134-30455645	H1-neurons	neurons:	n/a	n/a
9	REST	chr2:30452536-30457549	H1-neurons	neurons:	n/a	chr2:30453631-30453649 chr2:30453642-30453655 chr2:30454097-30454110 chr2:30454675-30454688 chr2:30453921-30453934 chr2:30453992-30454005
10	NRF1	chr2:30453071-30454926	SK-N-SH	brain:	n/a	chr2:30453330-30453339 chr2:30454257-30454266 chr2:30453332-30453341 chr2:30454638-30454652 chr2:30454053-30454062 chr2:30454354-30454363
11	POLR2A	chr2:30453153-30464183	SK-N-MC	brain:	n/a	n/a
12	TAF1	chr2:30453177-30455527	H1-neurons	neurons:	n/a	n/a
13	CHD1	chr2:30453085-30459569	IMR90	lung:	n/a	chr2:30453328-30453338 chr2:30454803-30454813
14	RAD21	chr2:30453239-30453584	SK-N-SH_RA	brain:	n/a	n/a
15	RAD21	chr2:30453229-30453625	H1-hESC	embryonic stem cell:	n/a	n/a
16	MYC	chr2:30453148-30455084	K562	blood:	n/a	chr2:30454329-30454339 chr2:30454901-30454920 chr2:30454054-30454064
17	RAD21	chr2:30453191-30453619	SK-N-SH_RA	brain:	n/a	n/a
18	POLR2A	chr2:30453060-30455948	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr2:30453183-30456089	H1-neurons	neurons:	n/a	n/a
20	JUN	chr2:30453166-30454998	K562	blood:	n/a	chr2:30453600-30453609 chr2:30454258-30454267

No.	Distal block	Cell Line	Cell type
1	chr2:30451354..30455634-chr2:30568138..30570876,3	K562	blood:
2	chr2:30427193..30432994-chr2:30451939..30456057,6	K562	blood:
3	chr2:30451969..30454604-chr2:30669311..30670906,2	K562	blood:
4	chr2:30431355..30431879-chr2:30452800..30453629,3	K562	blood:

Variant related genes	Relation type
LBH	TF binding region
ENSG00000235997	Chromatin interaction
ENSG00000172954	Chromatin interaction
ENSG00000231712	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10209384	0.92[AMR][1000 genomes]
rs60001273	0.94[EUR][1000 genomes]
rs72785898	0.92[AMR][1000 genomes]
rs72787703	0.96[AMR][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30448600-30453400	Weak transcription	Brain Substantia Nigra	brain
2	chr2:30448600-30453600	Enhancers	Fetal Heart	heart
3	chr2:30449400-30453400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:30449400-30453400	Weak transcription	Adipose Nuclei	Adipose
5	chr2:30449400-30453400	Weak transcription	Aorta	Aorta
6	chr2:30449400-30453400	Weak transcription	Brain Anterior Caudate	brain
7	chr2:30449400-30453400	Weak transcription	Left Ventricle	heart
8	chr2:30449400-30453400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:30449400-30453400	Weak transcription	Stomach Mucosa	stomach
10	chr2:30449400-30453400	Weak transcription	Spleen	Spleen
11	chr2:30449400-30453600	Weak transcription	Esophagus	oesophagus
12	chr2:30449400-30453600	Weak transcription	Lung	lung
13	chr2:30449400-30453800	Weak transcription	Gastric	stomach
14	chr2:30449600-30453600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:30449800-30453400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:30449800-30453400	Weak transcription	Right Atrium	heart
17	chr2:30449800-30453400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:30449800-30453400	Weak transcription	NHLF	lung
19	chr2:30449800-30453600	Weak transcription	Small Intestine	intestine
20	chr2:30450000-30453600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:30450200-30453400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:30450400-30453400	Weak transcription	Fetal Lung	lung
23	chr2:30450400-30453400	Weak transcription	HSMMtube	muscle
24	chr2:30450600-30453400	Weak transcription	GM12878-XiMat	blood
25	chr2:30452600-30453400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:30452600-30453400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:30452600-30453400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr2:30452600-30453600	Enhancers	Placenta	Placenta
29	chr2:30452600-30453800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:30452800-30453400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:30452800-30453400	Enhancers	Brain Cingulate Gyrus	brain
32	chr2:30452800-30454000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr2:30453000-30453400	Flanking Active TSS	Fetal Brain Male	brain
34	chr2:30453000-30453800	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr2:30453000-30453800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr2:30453000-30454000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr2:30453000-30455800	Active TSS	Fetal Brain Female	brain
38	chr2:30453200-30453400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:30453200-30453400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:30453200-30453400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:30453200-30453400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:30453200-30453400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr2:30453200-30453400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:30453200-30453400	Enhancers	Brain Hippocampus Middle	brain
45	chr2:30453200-30453400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:30453200-30453400	Active TSS	Colon Smooth Muscle	Colon
47	chr2:30453200-30453400	Bivalent Enhancer	Fetal Intestine Large	intestine
48	chr2:30453200-30453400	Bivalent Enhancer	Fetal Intestine Small	intestine
49	chr2:30453200-30453400	Flanking Active TSS	Fetal Kidney	kidney
50	chr2:30453200-30453400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle

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