Variant report

Variant	rs55711297
Chromosome Location	chr12:104323413-104323414
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	GABPA	chr12:104322837-104324464	SK-N-SH	brain:	n/a	chr12:104323616-104323625 chr12:104324137-104324146
2	ZNF143	chr12:104322493-104324458	GM12878	blood:	n/a	chr12:104324141-104324159 chr12:104323579-104323597 chr12:104323586-104323595 chr12:104323536-104323554 chr12:104324136-104324146 chr12:104323540-104323559 chr12:104324429-104324447
3	EBF1	chr12:104322093-104325000	GM12878	blood:	n/a	n/a
4	TCF12	chr12:104323372-104323582	GM12878	blood:	n/a	n/a
5	IRF1	chr12:104323129-104324338	K562	blood:	n/a	chr12:104324147-104324156 chr12:104323289-104323303
6	RUNX3	chr12:104321971-104325533	GM12878	blood:	n/a	n/a
7	BCL3	chr12:104322865-104324368	A549	lung:	n/a	chr12:104323616-104323629 chr12:104323586-104323594 chr12:104323615-104323624 chr12:104323613-104323626
8	CHD2	chr12:104323166-104325167	Hela-S3	cervix:	n/a	chr12:104324650-104324660
9	MTA3	chr12:104322308-104323916	GM12878	blood:	n/a	n/a
10	MEF2A	chr12:104322248-104323544	GM12878	blood:	n/a	n/a
11	BCLAF1	chr12:104322139-104323932	GM12878	blood:	n/a	chr12:104323616-104323629 chr12:104323586-104323594 chr12:104323615-104323624 chr12:104323613-104323626
12	POLR2A	chr12:104322428-104325591	SK-N-MC	brain:	n/a	n/a
13	WRNIP1	chr12:104322092-104325599	GM12878	blood:	n/a	n/a
14	POLR2A	chr12:104322636-104323705	GM12878	blood:	n/a	n/a
15	NFIC	chr12:104322006-104324995	GM12878	blood:	n/a	n/a
16	JUND	chr12:104322907-104324569	A549	lung:	n/a	chr12:104324044-104324053 chr12:104323621-104323630 chr12:104323993-104324002 chr12:104323613-104323622 chr12:104324060-104324069 chr12:104323617-104323626 chr12:104323618-104323627
17	YY1	chr12:104322867-104324436	GM12892	blood:	n/a	chr12:104323616-104323625 chr12:104323613-104323622 chr12:104323287-104323301 chr12:104323621-104323630 chr12:104323613-104323624 chr12:104323626-104323634
18	TAF1	chr12:104322935-104323533	GM12878	blood:	n/a	n/a
19	POLR2A	chr12:104322498-104325320	GM12878	blood:	n/a	n/a
20	FOXM1	chr12:104322048-104323502	GM12878	blood:	n/a	n/a
21	POLR2A	chr12:104323070-104323641	HCT-116	colon:	n/a	n/a
22	MYC	chr12:104322591-104324497	K562	blood:	n/a	chr12:104324136-104324146 chr12:104324419-104324429 chr12:104323780-104323789 chr12:104323784-104323793 chr12:104323936-104323951 chr12:104324369-104324379
23	MAX	chr12:104322072-104325169	GM12878	blood:	n/a	chr12:104324136-104324146 chr12:104322562-104322569 chr12:104324993-104325000 chr12:104324419-104324429 chr12:104323780-104323789 chr12:104324642-104324652 chr12:104323784-104323793 chr12:104323936-104323951 chr12:104322561-104322572 chr12:104324369-104324379
24	TCF12	chr12:104323373-104323679	H1-hESC	embryonic stem cell:	n/a	n/a
25	TAF1	chr12:104322790-104323593	GM12891	blood:	n/a	n/a
26	ELF1	chr12:104323053-104324268	A549	lung:	n/a	chr12:104323827-104323838 chr12:104323825-104323838 chr12:104323287-104323296
27	MXI1	chr12:104323090-104325397	Hela-S3	cervix:	n/a	chr12:104323780-104323795 chr12:104323778-104323793
28	YY1	chr12:104323258-104324887	ECC-1	luminal epithelium:	n/a	chr12:104323616-104323625 chr12:104323613-104323622 chr12:104323287-104323301 chr12:104323621-104323630 chr12:104323613-104323624 chr12:104323626-104323634
29	MYC	chr12:104323016-104325167	K562	blood:	n/a	chr12:104324136-104324146 chr12:104324993-104325000 chr12:104324419-104324429 chr12:104323780-104323789 chr12:104324642-104324652 chr12:104323784-104323793 chr12:104323936-104323951 chr12:104324369-104324379
30	ETS1	chr12:104323211-104324491	K562	blood:	n/a	chr12:104323829-104323846 chr12:104324054-104324067 chr12:104323829-104323838 chr12:104323829-104323838 chr12:104324145-104324156 chr12:104323616-104323627 chr12:104323830-104323840 chr12:104324052-104324067 chr12:104323829-104323846 chr12:104323585-104323598 chr12:104324137-104324148 chr12:104323586-104323599 chr12:104323829-104323838
31	GABPA	chr12:104323008-104324431	SK-N-SH	brain:	n/a	chr12:104323616-104323625 chr12:104324137-104324146
32	RELA	chr12:104321990-104325291	GM19193	blood:	n/a	n/a
33	SIX5	chr12:104322968-104324401	A549	lung:	n/a	chr12:104323586-104323595 chr12:104323588-104323597 chr12:104323585-104323599
34	POU2F2	chr12:104322391-104323600	GM12878	blood:	n/a	n/a
35	UBTF	chr12:104323087-104323487	K562	blood:	n/a	n/a
36	EGR1	chr12:104323347-104324643	MCF-7	breast:	n/a	chr12:104323616-104323626 chr12:104323615-104323625 chr12:104324238-104324251 chr12:104323535-104323559 chr12:104324059-104324072 chr12:104324058-104324073 chr12:104323616-104323631 chr12:104324059-104324072 chr12:104323617-104323630 chr12:104323574-104323598 chr12:104323620-104323630 chr12:104324239-104324253 chr12:104323617-104323630
37	POLR2A	chr12:104323105-104323590	ProgFib	skin:	n/a	n/a
38	CREB1	chr12:104322959-104324558	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr12:104322422-104323610	GM12892	blood:	n/a	n/a
40	TBL1XR1	chr12:104323393-104324445	K562	blood:	n/a	n/a
41	CBX3	chr12:104323280-104324548	K562	blood:	n/a	n/a
42	ZNF143	chr12:104323002-104324370	K562	blood:	n/a	chr12:104324141-104324159 chr12:104323579-104323597 chr12:104323586-104323595 chr12:104323536-104323554 chr12:104324136-104324146 chr12:104323540-104323559
43	ZBTB33	chr12:104323232-104324203	A549	lung:	n/a	n/a
44	SIN3AK20	chr12:104323076-104323614	HepG2	liver:	n/a	n/a
45	MAX	chr12:104322913-104325128	Hela-S3	cervix:	n/a	chr12:104324136-104324146 chr12:104324993-104325000 chr12:104324419-104324429 chr12:104323780-104323789 chr12:104324642-104324652 chr12:104323784-104323793 chr12:104323936-104323951 chr12:104324369-104324379
46	GABPA	chr12:104323382-104324298	GM12878	blood:	n/a	chr12:104323616-104323625 chr12:104324137-104324146
47	NFIC	chr12:104322910-104323604	HepG2	liver:	n/a	n/a
48	MAX	chr12:104322651-104325593	A549	lung:	n/a	chr12:104324136-104324146 chr12:104324993-104325000 chr12:104324419-104324429 chr12:104323780-104323789 chr12:104324642-104324652 chr12:104323784-104323793 chr12:104323936-104323951 chr12:104324369-104324379
49	GTF2F1	chr12:104322937-104324405	Hela-S3	cervix:	n/a	n/a
50	CREB1	chr12:104322814-104325148	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:104323367-104323417	SAEC	small airway:	n/a
2	chr12:104323367-104323417	A549	lung:	n/a
3	chr12:104323367-104323417	AoSMC	blood vessel:	n/a
4	chr12:104323367-104323417	PrEC	prostate:	n/a
5	chr12:104323367-104323417	HRPEpiC	eye:	n/a
6	chr12:104323367-104323417	HCT-116	colon:	n/a
7	chr12:104323367-104323417	MCF-7	breast:	n/a
8	chr12:104323367-104323417	NB4	blood:	n/a
9	chr12:104323367-104323417	GM06990	blood:	n/a
10	chr12:104323367-104323417	BE2_C	brain:	n/a
11	chr12:104323367-104323417	HL-60	blood:	n/a
12	chr12:104323367-104323417	AG09309	skin:	n/a
13	chr12:104323367-104323417	Hepatocyte	liver:	n/a
14	chr12:104323367-104323417	NT2-D1	testis:	n/a
15	chr12:104323367-104323417	AG04449	skin:	fetal
16	chr12:104323367-104323417	Caco-2	colon:	n/a
17	chr12:104323367-104323417	NHDF-neo	bronchial:	n/a
18	chr12:104323367-104323417	HRCEpiC	kidney:	n/a
19	chr12:104323367-104323417	HMEC	breast:	n/a
20	chr12:104323367-104323417	PANC-1	pancreas:	n/a
21	chr12:104323367-104323417	GM12891	blood:	n/a
22	chr12:104323367-104323417	HEK293	kidney:	embryo
23	chr12:104323367-104323417	SK-N-MC	brain:	n/a
24	chr12:104323367-104323417	NHBE	bronchial:	n/a
25	chr12:104323367-104323417	MCF10A-Er-Src	breast:	n/a
26	chr12:104323367-104323417	LNCaP	prostate:	n/a
27	chr12:104323367-104323417	ProgFib	skin:	n/a
28	chr12:104323367-104323417	ovcar-3	ovarian:	n/a
29	chr12:104323367-104323417	HCF	heart:	n/a
30	chr12:104323367-104323417	H1-hESC	embryonic stem cell:	embryo
31	chr12:104323367-104323417	HNPCEpiC	eye:	n/a
32	chr12:104323367-104323417	T-47D	breast:	n/a
33	chr12:104323367-104323417	NH-A	brain:	n/a
34	chr12:104323367-104323417	SKMC	muscle:	n/a
35	chr12:104323367-104323417	HCM	heart:	n/a
36	chr12:104323367-104323417	SK-N-SH	brain:	n/a
37	chr12:104323367-104323417	Hela-S3	cervix:	n/a
38	chr12:104323367-104323417	GM12892	blood:	n/a
39	chr12:104323367-104323417	HAEpiC	amniotic membrane:	n/a
40	chr12:104323367-104323417	SK-N-SH_RA	brain:	n/a
41	chr12:104323367-104323417	BJ	skin:	n/a
42	chr12:104323367-104323417	HUVEC	blood vessel:	n/a
43	chr12:104323367-104323417	RPTEC	kidney:	n/a
44	chr12:104323367-104323417	HPAEpiC	pulmonary alveolar:	n/a
45	chr12:104323367-104323417	GM19239	blood:	n/a
46	chr12:104323367-104323417	HepG2	liver:	n/a
47	chr12:104323367-104323417	IMR90	lung:	fetal
48	chr12:104323367-104323417	HEEpiC	esophagus:	n/a
49	chr12:104323367-104323417	HRE	kidney:	n/a
50	chr12:104323367-104323417	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:109642498..109643231-chr12:104323072..104323792,2	Hela-S3	cervix:
2	chr11:62608620..62609147-chr12:104322726..104323477,2	NB4	blood:
3	chr12:104298858..104303101-chr12:104321689..104325332,4	K562	blood:
4	chr12:104320418..104331406-chr12:104346801..104355501,25	MCF-7	breast:
5	chr12:104233909..104239694-chr12:104322835..104327398,8	K562	blood:
6	chr12:104323141..104323941-chr5:162886624..162887510,2	Hela-S3	cervix:
7	chr12:104314809..104316668-chr12:104321304..104323532,2	MCF-7	breast:
8	chr12:104233715..104236918-chr12:104321893..104325386,6	K562	blood:
9	chr12:104319225..104328292-chr12:104356282..104362179,14	K562	blood:
10	chr12:104322684..104325586-chr12:104530441..104532019,2	K562	blood:
11	chr12:104276117..104279238-chr12:104322705..104326968,4	K562	blood:
12	chr12:104322943..104325215-chr12:104358408..104360868,4	MCF-7	breast:
13	chr12:104309007..104311155-chr12:104321580..104324192,3	K562	blood:
14	chr12:104313655..104316610-chr12:104321073..104323844,5	MCF-7	breast:
15	chr12:104317968..104319875-chr12:104322035..104323737,2	MCF-7	breast:
16	chr12:104300678..104303599-chr12:104319392..104323559,4	K562	blood:
17	chr12:104294934..104297771-chr12:104321554..104323667,2	MCF-7	breast:

Variant related genes	Relation type
MIR3652	TF binding region
HSP90B1	TF binding region
MIR3652	CpG island
HSP90B1	CpG island
ENSG00000072571	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000120837	Chromatin interaction
ENSG00000111696	Chromatin interaction
ENSG00000257327	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000270066	Chromatin interaction
ENSG00000170584	Chromatin interaction

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

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

rs_ID	r²[population]
rs57781511	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59465189	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60547737	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7137277	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7300658	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104322000-104323600	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr12:104322000-104323600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:104322000-104323600	Flanking Active TSS	Fetal Thymus	thymus
4	chr12:104322000-104325000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr12:104322000-104325200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr12:104322000-104325200	Active TSS	Rectal Smooth Muscle	rectum
7	chr12:104322200-104324800	Active TSS	Thymus	Thymus
8	chr12:104322200-104325200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr12:104322200-104325200	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr12:104322200-104326200	Active TSS	H1 Cell Line	embryonic stem cell
11	chr12:104322200-104326200	Active TSS	GM12878-XiMat	blood
12	chr12:104322400-104323600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr12:104322400-104325200	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr12:104322400-104325200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr12:104322400-104325200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr12:104322400-104325400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:104322400-104325600	Active TSS	H9 Cell Line	embryonic stem cell
18	chr12:104322400-104325800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr12:104322400-104326000	Active TSS	Colonic Mucosa	Colon
20	chr12:104322400-104326000	Active TSS	Fetal Intestine Small	intestine
21	chr12:104322400-104327000	Active TSS	Right Atrium	heart
22	chr12:104322600-104323600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:104322600-104324800	Active TSS	Primary B cells from peripheral blood	blood
24	chr12:104322600-104325000	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr12:104322600-104325200	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr12:104322600-104325200	Active TSS	Brain Substantia Nigra	brain
27	chr12:104322600-104325400	Active TSS	Brain Hippocampus Middle	brain
28	chr12:104322600-104325400	Active TSS	Gastric	stomach
29	chr12:104322600-104325400	Active TSS	Placenta Amnion	Placenta Amnion
30	chr12:104322600-104325600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:104322600-104325600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:104322600-104325600	Active TSS	Esophagus	oesophagus
33	chr12:104322600-104325600	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr12:104322600-104325800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:104322600-104325800	Active TSS	Fetal Muscle Trunk	muscle
36	chr12:104322600-104326400	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr12:104322600-104327000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:104322600-104327200	Active TSS	Aorta	Aorta
39	chr12:104322800-104323600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr12:104322800-104323800	Active TSS	Fetal Brain Male	brain
41	chr12:104322800-104324200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:104322800-104324600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:104322800-104324600	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr12:104322800-104324800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:104322800-104325000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:104322800-104325000	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr12:104322800-104325200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:104322800-104325200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:104322800-104325200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:104322800-104325200	Active TSS	HUES48 Cell Line	embryonic stem cell

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