Variant report

Variant	rs547830135
Chromosome Location	chr2:86668507-86668508
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	POLR2A	chr2:86667700-86668762	GM12878	blood:	n/a	n/a
2	BRCA1	chr2:86667629-86668661	Hela-S3	cervix:	n/a	n/a
3	SIN3AK20	chr2:86668225-86668864	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr2:86668360-86668691	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:86667740-86668806	HCT-116	colon:	n/a	n/a
6	POLR2A	chr2:86667711-86669509	GM19193	blood:	n/a	n/a
7	TAF1	chr2:86667749-86668665	H1-neurons	neurons:	n/a	n/a
8	GABPA	chr2:86667828-86668557	A549	lung:	n/a	chr2:86667900-86667909 chr2:86667898-86667912 chr2:86667845-86667859 chr2:86667848-86667859 chr2:86667898-86667909
9	MYBL2	chr2:86667284-86668677	HepG2	liver:	n/a	n/a
10	CEBPD	chr2:86667673-86668705	K562	blood:	n/a	n/a
11	CREB1	chr2:86667840-86668662	A549	lung:	n/a	n/a
12	CEBPB	chr2:86667846-86668566	IMR90	lung:	n/a	chr2:86668417-86668425
13	TAF1	chr2:86667692-86668659	A549	lung:	n/a	n/a
14	MAX	chr2:86667357-86668843	A549	lung:	n/a	chr2:86667843-86667850 chr2:86668345-86668355 chr2:86667840-86667855 chr2:86668553-86668563 chr2:86667838-86667853 chr2:86667842-86667852 chr2:86667842-86667851
15	HEY1	chr2:86668280-86670303	K562	blood:	n/a	chr2:86668618-86668633 chr2:86668345-86668360 chr2:86668945-86668960 chr2:86668629-86668644
16	POLR2A	chr2:86667655-86669884	GM19099	blood:	n/a	n/a
17	NFYB	chr2:86667773-86668650	GM12878	blood:	n/a	chr2:86668414-86668429 chr2:86668416-86668426 chr2:86668414-86668429 chr2:86668414-86668428 chr2:86668413-86668425 chr2:86668411-86668426
18	POLR2A	chr2:86667739-86669701	H1-hESC	embryonic stem cell:	n/a	n/a
19	NR2F2	chr2:86667556-86668517	K562	blood:	n/a	n/a
20	EGR1	chr2:86667731-86668654	K562	blood:	n/a	chr2:86667849-86667858 chr2:86667899-86667908 chr2:86668347-86668360 chr2:86667976-86667990
21	POLR2A	chr2:86667840-86668736	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr2:86668306-86668782	A549	lung:	n/a	n/a
23	CEBPB	chr2:86667748-86668598	H1-hESC	embryonic stem cell:	n/a	chr2:86668417-86668425
24	BACH1	chr2:86667542-86668688	H1-hESC	embryonic stem cell:	n/a	n/a
25	ZNF143	chr2:86667513-86668627	GM12878	blood:	n/a	n/a
26	POLR2A	chr2:86668335-86668743	GM12878	blood:	n/a	n/a
27	POLR2A	chr2:86667642-86668700	U87	brain:	n/a	n/a
28	MYC	chr2:86668488-86668529	MCF-7	breast:	n/a	n/a
29	FOSL2	chr2:86667616-86668655	A549	lung:	n/a	chr2:86668542-86668552 chr2:86668543-86668551 chr2:86668445-86668454 chr2:86668542-86668552 chr2:86668558-86668567 chr2:86668418-86668427 chr2:86668551-86668560
30	MAX	chr2:86667545-86668758	MCF-7	breast:	n/a	chr2:86667843-86667850 chr2:86668345-86668355 chr2:86667840-86667855 chr2:86668553-86668563 chr2:86667838-86667853 chr2:86667842-86667852 chr2:86667842-86667851
31	MAX	chr2:86667556-86668605	A549	lung:	n/a	chr2:86667843-86667850 chr2:86668345-86668355 chr2:86667840-86667855 chr2:86668553-86668563 chr2:86667838-86667853 chr2:86667842-86667852 chr2:86667842-86667851
32	ZNF384	chr2:86667740-86668605	K562	blood:	n/a	n/a
33	JUND	chr2:86667582-86668681	H1-hESC	embryonic stem cell:	n/a	chr2:86668542-86668552 chr2:86668543-86668551 chr2:86668445-86668454 chr2:86668542-86668552 chr2:86668558-86668567 chr2:86668418-86668427 chr2:86668551-86668560
34	MYC	chr2:86667668-86668572	K562	blood:	n/a	chr2:86667843-86667850 chr2:86668345-86668355 chr2:86667840-86667855 chr2:86668553-86668563 chr2:86667838-86667853 chr2:86667842-86667852 chr2:86667842-86667851
35	POLR2A	chr2:86667695-86669559	GM12892	blood:	n/a	n/a
36	POLR2A	chr2:86668268-86668940	K562	blood:	n/a	n/a
37	MYC	chr2:86667407-86669561	K562	blood:	n/a	chr2:86669091-86669101 chr2:86667843-86667850 chr2:86668345-86668355 chr2:86667840-86667855 chr2:86668553-86668563 chr2:86667838-86667853 chr2:86667842-86667852 chr2:86667842-86667851
38	CTCF	chr2:86668460-86668610	SK-N-SH_RA	brain:	n/a	n/a
39	POLR2A	chr2:86667701-86668777	PBDE	blood:	n/a	n/a
40	POLR2A	chr2:86668366-86668783	A549	lung:	n/a	n/a
41	CEBPB	chr2:86667820-86668584	HepG2	liver:	n/a	chr2:86668417-86668425
42	MAX	chr2:86667351-86668765	ECC-1	luminal epithelium:	n/a	chr2:86667843-86667850 chr2:86668345-86668355 chr2:86667840-86667855 chr2:86668553-86668563 chr2:86667838-86667853 chr2:86667842-86667852 chr2:86667842-86667851
43	MAZ	chr2:86667693-86670026	K562	blood:	n/a	chr2:86669091-86669101 chr2:86667843-86667850 chr2:86668345-86668355 chr2:86667840-86667855 chr2:86668553-86668563 chr2:86667838-86667853 chr2:86667842-86667852 chr2:86667842-86667851
44	CTCF	chr2:86668480-86668630	GM12865	blood:	n/a	n/a
45	PML	chr2:86668290-86668717	MCF-7	breast:	n/a	chr2:86668541-86668550
46	TAF1	chr2:86668346-86668617	GM12878	blood:	n/a	n/a
47	MAX	chr2:86667650-86668612	K562	blood:	n/a	chr2:86667843-86667850 chr2:86668345-86668355 chr2:86667840-86667855 chr2:86668553-86668563 chr2:86667838-86667853 chr2:86667842-86667852 chr2:86667842-86667851
48	JUND	chr2:86667747-86668706	K562	blood:	n/a	chr2:86668542-86668552 chr2:86668543-86668551 chr2:86668445-86668454 chr2:86668542-86668552 chr2:86668558-86668567 chr2:86668418-86668427 chr2:86668551-86668560
49	POLR2A	chr2:86667647-86668675	PFSK-1	brain:	n/a	n/a
50	BHLHE40	chr2:86667503-86668679	HepG2	liver:	n/a	chr2:86668578-86668594 chr2:86668531-86668547

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:86668469-86668519	AG10803	skin:	n/a
2	chr2:86668469-86668519	HCPEpiC	choroid plexus:	n/a
3	chr2:86668501-86668551	HPAEpiC	pulmonary alveolar:	n/a
4	chr2:86668501-86668551	HAEpiC	amniotic membrane:	n/a
5	chr2:86668469-86668519	Jurkat	blood:	n/a
6	chr2:86668469-86668519	GM12892	blood:	n/a
7	chr2:86668469-86668519	SAEC	small airway:	n/a
8	chr2:86668501-86668551	GM12891	blood:	n/a
9	chr2:86668501-86668551	PFSK-1	brain:	n/a
10	chr2:86668469-86668519	ECC-1	luminal epithelium:	n/a
11	chr2:86668469-86668519	AG09319	gingival:	n/a
12	chr2:86668501-86668551	ovcar-3	ovarian:	n/a
13	chr2:86668501-86668551	HCPEpiC	choroid plexus:	n/a
14	chr2:86668501-86668551	LNCaP	prostate:	n/a
15	chr2:86668469-86668519	HUVEC	blood vessel:	n/a
16	chr2:86668501-86668551	BJ	skin:	n/a
17	chr2:86668469-86668519	HRPEpiC	eye:	n/a
18	chr2:86668501-86668551	ProgFib	skin:	n/a
19	chr2:86668501-86668551	SK-N-SH	brain:	n/a
20	chr2:86668501-86668551	HL-60	blood:	n/a
21	chr2:86668469-86668519	GM19239	blood:	n/a
22	chr2:86668469-86668519	AG04449	skin:	fetal
23	chr2:86668469-86668519	NT2-D1	testis:	n/a
24	chr2:86668501-86668551	CMK	blood:	n/a
25	chr2:86668501-86668551	HRE	kidney:	n/a
26	chr2:86668501-86668551	RPTEC	kidney:	n/a
27	chr2:86668469-86668519	Caco-2	colon:	n/a
28	chr2:86668469-86668519	PANC-1	pancreas:	n/a
29	chr2:86668469-86668519	A549	lung:	n/a
30	chr2:86668501-86668551	HMEC	breast:	n/a
31	chr2:86668501-86668551	HCT-116	colon:	n/a
32	chr2:86668469-86668519	ProgFib	skin:	n/a
33	chr2:86668501-86668551	HRCEpiC	kidney:	n/a
34	chr2:86668501-86668551	SK-N-SH_RA	brain:	n/a
35	chr2:86668501-86668551	HNPCEpiC	eye:	n/a
36	chr2:86668469-86668519	HRE	kidney:	n/a
37	chr2:86668501-86668551	NB4	blood:	n/a
38	chr2:86668501-86668551	Hela-S3	cervix:	n/a
39	chr2:86668469-86668519	HepG2	liver:	n/a
40	chr2:86668501-86668551	Jurkat	blood:	n/a
41	chr2:86668469-86668519	SK-N-SH_RA	brain:	n/a
42	chr2:86668469-86668519	SK-N-SH	brain:	n/a
43	chr2:86668501-86668551	H1-hESC	embryonic stem cell:	embryo
44	chr2:86668469-86668519	BE2_C	brain:	n/a
45	chr2:86668469-86668519	K562	blood:	n/a
46	chr2:86668469-86668519	AG09309	skin:	n/a
47	chr2:86668501-86668551	MCF-7	breast:	n/a
48	chr2:86668469-86668519	SK-N-MC	brain:	n/a
49	chr2:86668469-86668519	H1-hESC	embryonic stem cell:	embryo
50	chr2:86668469-86668519	GM06990	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:86667340..86669262-chr2:86848703..86850957,2	MCF-7	breast:
2	chr2:85644431..85647240-chr2:86667731..86670079,2	MCF-7	breast:
3	chr2:86667710..86668832-chr6:27100599..27101496,3	Hela-S3	cervix:
4	chr2:86667867..86670714-chr2:86788591..86792016,6	K562	blood:
5	chr2:86667181..86671352-chr2:86788569..86792016,9	K562	blood:
6	chr2:86667874..86671580-chr2:86848738..86852940,5	K562	blood:
7	chr2:86668339..86669263-chr5:34929565..34930424,2	Hela-S3	cervix:
8	chr16:74700257..74700957-chr2:86668009..86668562,2	Hela-S3	cervix:
9	chr2:86666553..86668600-chr2:86715383..86717165,2	K562	blood:
10	chr17:8058990..8059958-chr2:86668366..86668958,2	Hela-S3	cervix:
11	chr2:86421282..86424146-chr2:86666466..86669906,3	K562	blood:
12	chr14:45430956..45431598-chr2:86668387..86668999,2	NB4	blood:
13	chr2:74006723..74007498-chr2:86668036..86668909,2	Hela-S3	cervix:
14	chr2:86421023..86423048-chr2:86667398..86669941,4	MCF-7	breast:
15	chr2:86421987..86423753-chr2:86668406..86670239,2	K562	blood:
16	chr1:27816372..27817353-chr2:86668252..86669236,2	Hela-S3	cervix:
17	chr2:86668149..86671762-chr2:86690412..86696565,6	K562	blood:

Variant related genes	Relation type
KDM3A	TF binding region
KDM3A	CpG island
ENSG00000249884	Chromatin interaction
ENSG00000115561	Chromatin interaction
ENSG00000132305	Chromatin interaction
ENSG00000179454	Chromatin interaction
ENSG00000168724	Chromatin interaction
ENSG00000239305	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000158195	Chromatin interaction
ENSG00000144048	Chromatin interaction
ENSG00000152292	Chromatin interaction
ENSG00000168411	Chromatin interaction
ENSG00000273080	Chromatin interaction
ENSG00000042493	Chromatin interaction
ENSG00000115548	Chromatin interaction
ENSG00000198718	Chromatin interaction
ENSG00000228363	Chromatin interaction
ENSG00000179094	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv3354834	chr2:86667466-86670414	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86667400-86669200	Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr2:86667400-86670000	Active TSS	Brain Anterior Caudate	brain
3	chr2:86667400-86670000	Active TSS	HMEC	breast
4	chr2:86667400-86670200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:86667400-86670200	Active TSS	Brain Cingulate Gyrus	brain
6	chr2:86667400-86670200	Active TSS	Brain Hippocampus Middle	brain
7	chr2:86667600-86669200	Active TSS	Primary hematopoietic stem cells	blood
8	chr2:86667600-86669200	Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr2:86667600-86669200	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr2:86667600-86669200	Active TSS	Stomach Smooth Muscle	stomach
11	chr2:86667600-86669400	Active TSS	Liver	Liver
12	chr2:86667600-86669400	Active TSS	K562	blood
13	chr2:86667600-86669400	Active TSS	Monocytes-CD14+_RO01746	blood
14	chr2:86667600-86669600	Active TSS	Duodenum Mucosa	Duodenum
15	chr2:86667600-86669600	Active TSS	Osteobl	bone
16	chr2:86667600-86669800	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr2:86667600-86669800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:86667600-86669800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:86667600-86669800	Active TSS	Fetal Lung	lung
20	chr2:86667600-86670000	Active TSS	Primary T cells from cord blood	blood
21	chr2:86667600-86670000	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr2:86667600-86670000	Active TSS	A549	lung
23	chr2:86667600-86670200	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr2:86667600-86670200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:86667600-86670200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:86667600-86670200	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr2:86667600-86670200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:86667600-86670200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:86667600-86670200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:86667600-86670200	Active TSS	Brain Substantia Nigra	brain
31	chr2:86667600-86670200	Active TSS	Fetal Brain Female	brain
32	chr2:86667600-86670200	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr2:86667600-86670200	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr2:86667600-86670200	Active TSS	Thymus	Thymus
35	chr2:86667600-86670200	Active TSS	HSMM	muscle
36	chr2:86667600-86670400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:86667600-86670400	Active TSS	Brain Germinal Matrix	brain
38	chr2:86667600-86670400	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr2:86667600-86670400	Active TSS	Fetal Intestine Small	intestine
40	chr2:86667600-86670400	Active TSS	HSMMtube	muscle
41	chr2:86667600-86670800	Active TSS	Colonic Mucosa	Colon
42	chr2:86667800-86668600	Transcr. at gene 5' and 3'	Right Atrium	heart
43	chr2:86667800-86669200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr2:86667800-86669200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr2:86667800-86669200	Active TSS	Dnd41	blood
46	chr2:86667800-86669400	Active TSS	Primary B cells from peripheral blood	blood
47	chr2:86667800-86669400	Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr2:86667800-86669400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:86667800-86669400	Active TSS	NHEK	skin
50	chr2:86667800-86669600	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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