Variant report

Variant	rs564345145
Chromosome Location	chr2:86668175-86668176
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	POLR2A	chr2:86667700-86668762	GM12878	blood:	n/a	n/a
2	BRCA1	chr2:86667629-86668661	Hela-S3	cervix:	n/a	n/a
3	RFX5	chr2:86667998-86668494	K562	blood:	n/a	chr2:86668417-86668426
4	POLR2A	chr2:86667740-86668806	HCT-116	colon:	n/a	n/a
5	POLR2A	chr2:86667711-86669509	GM19193	blood:	n/a	n/a
6	TAF1	chr2:86667749-86668665	H1-neurons	neurons:	n/a	n/a
7	GABPA	chr2:86667828-86668557	A549	lung:	n/a	chr2:86667900-86667909 chr2:86667898-86667912 chr2:86667845-86667859 chr2:86667848-86667859 chr2:86667898-86667909
8	MYBL2	chr2:86667284-86668677	HepG2	liver:	n/a	n/a
9	BCL3	chr2:86667389-86668439	A549	lung:	n/a	chr2:86667856-86667869
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	POLR2A	chr2:86667655-86669884	GM19099	blood:	n/a	n/a
16	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
17	POLR2A	chr2:86667739-86669701	H1-hESC	embryonic stem cell:	n/a	n/a
18	NR2F2	chr2:86667556-86668517	K562	blood:	n/a	n/a
19	EGR1	chr2:86667731-86668654	K562	blood:	n/a	chr2:86667849-86667858 chr2:86667899-86667908 chr2:86668347-86668360 chr2:86667976-86667990
20	POLR2A	chr2:86667840-86668736	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr2:86667873-86668461	A549	lung:	n/a	chr2:86668417-86668425
22	CEBPB	chr2:86667748-86668598	H1-hESC	embryonic stem cell:	n/a	chr2:86668417-86668425
23	BACH1	chr2:86667542-86668688	H1-hESC	embryonic stem cell:	n/a	n/a
24	ZNF143	chr2:86667513-86668627	GM12878	blood:	n/a	n/a
25	STAT5A	chr2:86667514-86668477	GM12878	blood:	n/a	chr2:86668304-86668316 chr2:86667969-86667981 chr2:86667974-86667986
26	MAX	chr2:86667223-86668388	GM12878	blood:	n/a	chr2:86667843-86667850 chr2:86668345-86668355 chr2:86667840-86667855 chr2:86667838-86667853 chr2:86667842-86667852 chr2:86667842-86667851
27	EBF1	chr2:86667625-86668493	GM12878	blood:	n/a	n/a
28	REST	chr2:86667821-86668348	PFSK-1	brain:	n/a	chr2:86667855-86667868 chr2:86667997-86668010
29	POLR2A	chr2:86667642-86668700	U87	brain:	n/a	n/a
30	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
31	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
32	NFIC	chr2:86667323-86668504	GM12878	blood:	n/a	n/a
33	TEAD4	chr2:86667448-86668388	K562	blood:	n/a	n/a
34	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
35	ZNF384	chr2:86667740-86668605	K562	blood:	n/a	n/a
36	REST	chr2:86667722-86668333	K562	blood:	n/a	chr2:86667855-86667868 chr2:86667997-86668010
37	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
38	USF2	chr2:86667645-86668256	GM12878	blood:	n/a	n/a
39	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
40	POLR2A	chr2:86667695-86669559	GM12892	blood:	n/a	n/a
41	STAT3	chr2:86667492-86668271	GM12878	blood:	n/a	chr2:86667969-86667981 chr2:86667974-86667986
42	USF1	chr2:86667633-86668185	A549	lung:	n/a	n/a
43	STAT5A	chr2:86667823-86668432	GM12878	blood:	n/a	chr2:86668304-86668316 chr2:86667969-86667981 chr2:86667974-86667986
44	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
45	ZBTB7A	chr2:86667961-86668384	K562	blood:	n/a	n/a
46	GTF2B	chr2:86667819-86668224	K562	blood:	n/a	n/a
47	POLR2A	chr2:86667701-86668777	PBDE	blood:	n/a	n/a
48	CEBPB	chr2:86667820-86668584	HepG2	liver:	n/a	chr2:86668417-86668425
49	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
50	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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:86668131-86668181	SK-N-SH_RA	brain:	n/a
2	chr2:86668131-86668181	AG04450	lung:	fetal
3	chr2:86668131-86668181	Jurkat	blood:	n/a
4	chr2:86668131-86668181	PFSK-1	brain:	n/a
5	chr2:86668131-86668181	HMEC	breast:	n/a
6	chr2:86668131-86668181	SKMC	muscle:	n/a
7	chr2:86668131-86668181	U87	brain:	n/a
8	chr2:86668131-86668181	Hela-S3	cervix:	n/a
9	chr2:86668131-86668181	ovcar-3	ovarian:	n/a
10	chr2:86668131-86668181	AG04449	skin:	fetal
11	chr2:86668131-86668181	SK-N-SH	brain:	n/a
12	chr2:86668131-86668181	GM12878	blood:	n/a
13	chr2:86668131-86668181	NHDF-neo	bronchial:	n/a
14	chr2:86668131-86668181	ECC-1	luminal epithelium:	n/a
15	chr2:86668131-86668181	HL-60	blood:	n/a
16	chr2:86668131-86668181	SK-N-MC	brain:	n/a
17	chr2:86668131-86668181	IMR90	lung:	fetal
18	chr2:86668131-86668181	ProgFib	skin:	n/a
19	chr2:86668131-86668181	HCPEpiC	choroid plexus:	n/a
20	chr2:86668131-86668181	K562	blood:	n/a
21	chr2:86668131-86668181	PANC-1	pancreas:	n/a
22	chr2:86668131-86668181	Caco-2	colon:	n/a
23	chr2:86668131-86668181	HAEpiC	amniotic membrane:	n/a
24	chr2:86668131-86668181	AG09309	skin:	n/a
25	chr2:86668131-86668181	HRPEpiC	eye:	n/a
26	chr2:86668131-86668181	HEK293	kidney:	embryo
27	chr2:86668131-86668181	Hepatocyte	liver:	n/a
28	chr2:86668131-86668181	NH-A	brain:	n/a
29	chr2:86668131-86668181	MCF10A-Er-Src	breast:	n/a
30	chr2:86668131-86668181	HCF	heart:	n/a
31	chr2:86668131-86668181	HUVEC	blood vessel:	n/a
32	chr2:86668131-86668181	T-47D	breast:	n/a
33	chr2:86668131-86668181	LNCaP	prostate:	n/a
34	chr2:86668131-86668181	HPAEpiC	pulmonary alveolar:	n/a
35	chr2:86668131-86668181	HCM	heart:	n/a
36	chr2:86668131-86668181	CMK	blood:	n/a
37	chr2:86668131-86668181	HCT-116	colon:	n/a
38	chr2:86668131-86668181	PrEC	prostate:	n/a
39	chr2:86668131-86668181	AG09319	gingival:	n/a
40	chr2:86668131-86668181	AoSMC	blood vessel:	n/a
41	chr2:86668131-86668181	BJ	skin:	n/a
42	chr2:86668131-86668181	BE2_C	brain:	n/a
43	chr2:86668131-86668181	HepG2	liver:	n/a
44	chr2:86668131-86668181	GM06990	blood:	n/a
45	chr2:86668131-86668181	A549	lung:	n/a
46	chr2:86668131-86668181	GM19239	blood:	n/a
47	chr2:86668131-86668181	HEEpiC	esophagus:	n/a
48	chr2:86668131-86668181	H1-hESC	embryonic stem cell:	embryo
49	chr2:86668131-86668181	GM12892	blood:	n/a
50	chr2:86668131-86668181	MCF-7	breast:	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	chr16:74700257..74700957-chr2:86668009..86668562,2	Hela-S3	cervix:
8	chr2:86666553..86668600-chr2:86715383..86717165,2	K562	blood:
9	chr2:86421282..86424146-chr2:86666466..86669906,3	K562	blood:
10	chr2:74006723..74007498-chr2:86668036..86668909,2	Hela-S3	cervix:
11	chr2:86421023..86423048-chr2:86667398..86669941,4	MCF-7	breast:
12	chr2:86668149..86671762-chr2:86690412..86696565,6	K562	blood:

Variant related genes	Relation type
KDM3A	TF binding region
KDM3A	CpG island
ENSG00000132305	Chromatin interaction
ENSG00000273080	Chromatin interaction
ENSG00000115548	Chromatin interaction
ENSG00000228363	Chromatin interaction
ENSG00000144048	Chromatin interaction
ENSG00000168411	Chromatin interaction
ENSG00000239305	Chromatin interaction
ENSG00000115561	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000249884	Chromatin interaction
ENSG00000042493	Chromatin interaction
ENSG00000152292	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86666600-86668200	Active TSS	Fetal Heart	heart
2	chr2:86667000-86668200	Active TSS	Fetal Brain Male	brain
3	chr2:86667400-86669200	Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr2:86667400-86670000	Active TSS	Brain Anterior Caudate	brain
5	chr2:86667400-86670000	Active TSS	HMEC	breast
6	chr2:86667400-86670200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:86667400-86670200	Active TSS	Brain Cingulate Gyrus	brain
8	chr2:86667400-86670200	Active TSS	Brain Hippocampus Middle	brain
9	chr2:86667600-86668200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:86667600-86669200	Active TSS	Primary hematopoietic stem cells	blood
11	chr2:86667600-86669200	Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr2:86667600-86669200	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr2:86667600-86669200	Active TSS	Stomach Smooth Muscle	stomach
14	chr2:86667600-86669400	Active TSS	Liver	Liver
15	chr2:86667600-86669400	Active TSS	K562	blood
16	chr2:86667600-86669400	Active TSS	Monocytes-CD14+_RO01746	blood
17	chr2:86667600-86669600	Active TSS	Duodenum Mucosa	Duodenum
18	chr2:86667600-86669600	Active TSS	Osteobl	bone
19	chr2:86667600-86669800	Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr2:86667600-86669800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:86667600-86669800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:86667600-86669800	Active TSS	Fetal Lung	lung
23	chr2:86667600-86670000	Active TSS	Primary T cells from cord blood	blood
24	chr2:86667600-86670000	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr2:86667600-86670000	Active TSS	A549	lung
26	chr2:86667600-86670200	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr2:86667600-86670200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:86667600-86670200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:86667600-86670200	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr2:86667600-86670200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:86667600-86670200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:86667600-86670200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:86667600-86670200	Active TSS	Brain Substantia Nigra	brain
34	chr2:86667600-86670200	Active TSS	Fetal Brain Female	brain
35	chr2:86667600-86670200	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr2:86667600-86670200	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr2:86667600-86670200	Active TSS	Thymus	Thymus
38	chr2:86667600-86670200	Active TSS	HSMM	muscle
39	chr2:86667600-86670400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:86667600-86670400	Active TSS	Brain Germinal Matrix	brain
41	chr2:86667600-86670400	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr2:86667600-86670400	Active TSS	Fetal Intestine Small	intestine
43	chr2:86667600-86670400	Active TSS	HSMMtube	muscle
44	chr2:86667600-86670800	Active TSS	Colonic Mucosa	Colon
45	chr2:86667800-86668200	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr2:86667800-86668200	Flanking Active TSS	Fetal Muscle Trunk	muscle
47	chr2:86667800-86668200	Flanking Active TSS	Fetal Muscle Leg	muscle
48	chr2:86667800-86668200	Flanking Active TSS	Placenta	Placenta
49	chr2:86667800-86668200	Flanking Active TSS	Fetal Thymus	thymus
50	chr2:86667800-86668200	Flanking Active TSS	Rectal Smooth Muscle	rectum

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