Variant report

Variant	rs2912405
Chromosome Location	chr19:37064946-37064947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:63)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:63 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr19:37064760-37065273	Hela-S3	cervix:	n/a	n/a
2	SIX5	chr19:37063543-37065034	A549	lung:	n/a	chr19:37064824-37064833
3	POLR2A	chr19:37063759-37064981	K562	blood:	n/a	n/a
4	RCOR1	chr19:37063790-37064989	K562	blood:	n/a	n/a
5	MYC	chr19:37063618-37064985	K562	blood:	n/a	chr19:37064538-37064548
6	GABPA	chr19:37063623-37064971	MCF-7	breast:	n/a	n/a
7	POLR2A	chr19:37063721-37065130	K562	blood:	n/a	n/a
8	JUN	chr19:37062897-37065086	K562	blood:	n/a	chr19:37064515-37064524 chr19:37063533-37063540
9	POLR2A	chr19:37063671-37065194	HL-60	blood:	n/a	n/a
10	REST	chr19:37063464-37065233	H1-neurons	neurons:	n/a	chr19:37064538-37064551
11	HCFC1	chr19:37063159-37065363	Hela-S3	cervix:	n/a	n/a
12	USF2	chr19:37064874-37065069	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr19:37063767-37065181	MCF10A-Er-Src	breast:	n/a	n/a
14	SIN3AK20	chr19:37063757-37064949	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr19:37063733-37065073	HL-60	blood:	n/a	n/a
16	TBP	chr19:37064755-37065087	Hela-S3	cervix:	n/a	n/a
17	SREBP1	chr19:37063486-37065705	GM12878	blood:	n/a	n/a
18	POLR2A	chr19:37063765-37065149	GM12878	blood:	n/a	n/a
19	MYC	chr19:37064758-37065403	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr19:37064562-37064952	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr19:37063796-37065028	K562	blood:	n/a	n/a
22	SIN3A	chr19:37063325-37065413	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr19:37064549-37065000	GM12891	blood:	n/a	n/a
24	POLR2A	chr19:37063683-37064991	GM12878	blood:	n/a	n/a
25	POLR2A	chr19:37064607-37065024	GM12891	blood:	n/a	n/a
26	POLR2A	chr19:37063584-37065106	PBDE	blood:	n/a	n/a
27	POLR2A	chr19:37063775-37065002	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr19:37063686-37065043	GM12892	blood:	n/a	n/a
29	POLR2A	chr19:37063810-37065040	K562	blood:	n/a	n/a
30	POLR2A	chr19:37063718-37064957	GM12892	blood:	n/a	n/a
31	POLR2A	chr19:37063735-37065084	GM12891	blood:	n/a	n/a
32	POLR2A	chr19:37063845-37064966	GM12878	blood:	n/a	n/a
33	POLR2A	chr19:37063710-37064958	SK-N-MC	brain:	n/a	n/a
34	MAFK	chr19:37064661-37065131	K562	blood:	n/a	n/a
35	MXI1	chr19:37062890-37065821	SK-N-SH	brain:	n/a	n/a
36	GTF2F1	chr19:37064697-37064951	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr19:37063736-37065143	HepG2	liver:	n/a	n/a
38	NRF1	chr19:37064901-37065184	GM12878	blood:	n/a	n/a
39	GATA3	chr19:37064946-37065320	T-47D	breast:	n/a	n/a
40	POLR2A	chr19:37063636-37064981	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr19:37064926-37064948	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr19:37063723-37065043	K562	blood:	n/a	chr19:37064538-37064548
43	MXI1	chr19:37062659-37065381	IMR90	lung:	n/a	n/a
44	POLR2A	chr19:37064668-37064979	MCF-7	breast:	n/a	n/a
45	POLR2A	chr19:37063687-37065053	GM12878	blood:	n/a	n/a
46	TBP	chr19:37063619-37065055	K562	blood:	n/a	n/a
47	POLR2A	chr19:37063478-37065257	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr19:37063744-37065125	HepG2	liver:	n/a	n/a
49	BHLHE40	chr19:37063830-37065151	K562	blood:	n/a	chr19:37064596-37064612
50	EP300	chr19:37064912-37064949	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:37017989..37021035-chr19:37064029..37066517,3	MCF-7	breast:
2	chr19:36979193..36981748-chr19:37061672..37065426,4	K562	blood:
3	chr19:36867523..36870095-chr19:37064121..37065626,2	MCF-7	breast:
4	chr19:36704361..36705921-chr19:37063810..37066277,2	K562	blood:
5	chr19:37063014..37065659-chr19:37066533..37068326,2	MCF-7	breast:
6	chr19:37038594..37041681-chr19:37063019..37065867,3	K562	blood:
7	chr19:37063854..37065418-chr19:37262714..37265586,2	K562	blood:
8	chr19:36979379..36982047-chr19:37063909..37066157,2	K562	blood:
9	chr19:37062757..37066475-chr19:37067178..37075829,11	K562	blood:
10	chr19:37062757..37067111-chr19:37067178..37071986,8	K562	blood:
11	chr19:36940091..36943076-chr19:37061156..37065481,3	K562	blood:
12	chr19:37018711..37023188-chr19:37060299..37065354,5	K562	blood:
13	chr19:37037541..37041127-chr19:37063019..37065545,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233527	TF binding region
ZNF529	TF binding region
ENSG00000267041	Chromatin interaction
ENSG00000266973	Chromatin interaction
ENSG00000233527	Chromatin interaction
ENSG00000254004	Chromatin interaction
ENSG00000186020	Chromatin interaction
ENSG00000167635	Chromatin interaction
ENSG00000228629	Chromatin interaction
ENSG00000267309	Chromatin interaction
ENSG00000186017	Chromatin interaction
ENSG00000196357	Chromatin interaction
ENSG00000267260	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2912410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2967422	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4239586	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers 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 target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription 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 target site	73 gene(s)	inside rSNPs	diseases
7	esv3334779	chr19:37050161-37076919	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37062600-37065400	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr19:37062800-37065000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr19:37062800-37065600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:37062800-37065600	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr19:37062800-37065600	Active TSS	Colonic Mucosa	Colon
6	chr19:37062800-37065800	Active TSS	HMEC	breast
7	chr19:37062800-37066000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr19:37062800-37066000	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr19:37063000-37065200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr19:37063000-37065400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:37063000-37065400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:37063000-37065600	Active TSS	NHLF	lung
13	chr19:37063000-37065800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr19:37063000-37066000	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr19:37063200-37065000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:37063200-37065000	Active TSS	HSMMtube	muscle
17	chr19:37063200-37065200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr19:37063200-37065200	Active TSS	Right Atrium	heart
19	chr19:37063200-37065400	Active TSS	Muscle Satellite Cultured Cells	--
20	chr19:37063200-37065400	Active TSS	Fetal Muscle Trunk	muscle
21	chr19:37063200-37065400	Active TSS	HSMM	muscle
22	chr19:37063200-37065600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:37063200-37065600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:37063200-37065600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:37063200-37065800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr19:37063200-37065800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:37063200-37065800	Active TSS	Rectal Smooth Muscle	rectum
28	chr19:37063200-37065800	Active TSS	Right Ventricle	heart
29	chr19:37063400-37065000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr19:37063400-37065000	Active TSS	Brain Hippocampus Middle	brain
31	chr19:37063400-37065000	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr19:37063400-37065000	Active TSS	Left Ventricle	heart
33	chr19:37063400-37065000	Active TSS	Lung	lung
34	chr19:37063400-37065000	Bivalent/Poised TSS	HepG2	liver
35	chr19:37063400-37065000	Active TSS	Osteobl	bone
36	chr19:37063400-37065200	Active TSS	Aorta	Aorta
37	chr19:37063400-37065200	Active TSS	Fetal Thymus	thymus
38	chr19:37063400-37065200	Active TSS	Ovary	ovary
39	chr19:37063400-37065400	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr19:37063400-37065400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr19:37063400-37065400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr19:37063400-37065400	Active TSS	Fetal Kidney	kidney
43	chr19:37063400-37065400	Active TSS	Pancreas	Pancrea
44	chr19:37063400-37065400	Active TSS	NH-A	brain
45	chr19:37063400-37065600	Active TSS	H9 Cell Line	embryonic stem cell
46	chr19:37063400-37065600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr19:37063400-37065600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr19:37063400-37065600	Active TSS	Placenta Amnion	Placenta Amnion
49	chr19:37063400-37065800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr19:37063400-37065800	Active TSS	Fetal Intestine Large	intestine

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