Variant report

Variant	rs74069330
Chromosome Location	chr12:21810761-21810762
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	MAX	chr12:21809699-21811169	ECC-1	luminal epithelium:	n/a	chr12:21810341-21810352 chr12:21810784-21810794 chr12:21810919-21810929 chr12:21810137-21810146 chr12:21810781-21810791
2	POLR2A	chr12:21809796-21811182	ECC-1	luminal epithelium:	n/a	n/a
3	ZBTB33	chr12:21810539-21811105	A549	lung:	n/a	n/a
4	ZBTB7A	chr12:21810700-21811033	K562	blood:	n/a	chr12:21810800-21810811
5	TBL1XR1	chr12:21810696-21811101	K562	blood:	n/a	n/a
6	BCL3	chr12:21809563-21811078	A549	lung:	n/a	chr12:21810566-21810575 chr12:21810400-21810409 chr12:21810534-21810547
7	TCF12	chr12:21810513-21811057	GM12878	blood:	n/a	n/a
8	MAZ	chr12:21809921-21811110	K562	blood:	n/a	chr12:21810341-21810352 chr12:21810784-21810794 chr12:21810919-21810929 chr12:21810137-21810146 chr12:21810781-21810791
9	POLR2A	chr12:21809803-21811155	PBDE	blood:	n/a	n/a
10	EGR1	chr12:21810646-21810999	GM12878	blood:	n/a	chr12:21810781-21810794 chr12:21810786-21810796 chr12:21810781-21810794 chr12:21810780-21810795 chr12:21810783-21810793
11	YY1	chr12:21810155-21811085	SK-N-SH_RA	brain:	n/a	chr12:21810786-21810795 chr12:21810503-21810514 chr12:21810783-21810797
12	POLR2A	chr12:21810566-21810863	MCF-7	breast:	n/a	n/a
13	POLR2A	chr12:21809845-21811030	Hela-S3	cervix:	n/a	n/a
14	ELF1	chr12:21810679-21811072	K562	blood:	n/a	n/a
15	ETS1	chr12:21810665-21810852	K562	blood:	n/a	chr12:21810784-21810795
16	POLR2A	chr12:21809612-21811117	H1-hESC	embryonic stem cell:	n/a	n/a
17	TBP	chr12:21810476-21811104	GM12878	blood:	n/a	n/a
18	ATF3	chr12:21810097-21811159	A549	lung:	n/a	chr12:21810786-21810795
19	GATA3	chr12:21810050-21811195	A549	lung:	n/a	chr12:21810640-21810648 chr12:21810124-21810134
20	NANOG	chr12:21810664-21810869	H1-hESC	embryonic stem cell:	n/a	n/a
21	REST	chr12:21810582-21811035	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr12:21809698-21811173	GM12892	blood:	n/a	n/a
23	USF1	chr12:21809945-21810989	SK-N-SH	brain:	n/a	chr12:21810532-21810548
24	CHD1	chr12:21808698-21810976	H1-hESC	embryonic stem cell:	n/a	chr12:21809894-21809904
25	RELA	chr12:21809755-21811122	GM18505	blood:	n/a	n/a
26	ETS1	chr12:21810057-21810967	A549	lung:	n/a	chr12:21810852-21810865 chr12:21810323-21810334 chr12:21810784-21810795
27	TAF1	chr12:21810409-21811153	PFSK-1	brain:	n/a	n/a
28	ZKSCAN1	chr12:21810341-21810898	Hela-S3	cervix:	n/a	n/a
29	RUNX3	chr12:21810022-21811086	GM12878	blood:	n/a	n/a
30	POLR2A	chr12:21809881-21811073	GM12891	blood:	n/a	n/a
31	REST	chr12:21809764-21811116	HL-60	blood:	n/a	chr12:21810192-21810200 chr12:21810322-21810335 chr12:21810400-21810409 chr12:21809930-21809948
32	YY1	chr12:21809902-21811112	ECC-1	luminal epithelium:	n/a	chr12:21810786-21810795 chr12:21810503-21810514 chr12:21810783-21810797
33	JUND	chr12:21809825-21811135	A549	lung:	n/a	n/a
34	TCF3	chr12:21810587-21810765	GM12878	blood:	n/a	n/a
35	SIN3A	chr12:21809620-21810996	GM12878	blood:	n/a	chr12:21810400-21810410
36	POLR2A	chr12:21809802-21811128	IMR90	lung:	n/a	n/a
37	POLR2A	chr12:21809685-21811148	K562	blood:	n/a	n/a
38	POLR2A	chr12:21810401-21811102	U87	brain:	n/a	n/a
39	REST	chr12:21810431-21811102	PFSK-1	brain:	n/a	n/a
40	POLR2A	chr12:21809471-21811125	GM12878	blood:	n/a	n/a
41	TAF1	chr12:21810482-21811044	GM12891	blood:	n/a	n/a
42	YY1	chr12:21810595-21811086	HCT-116	colon:	n/a	chr12:21810786-21810795 chr12:21810783-21810797
43	MYC	chr12:21809513-21810961	MCF10A-Er-Src	breast:	n/a	chr12:21810341-21810352 chr12:21810784-21810794 chr12:21810919-21810929 chr12:21810137-21810146 chr12:21810781-21810791
44	GTF2F1	chr12:21810294-21810967	K562	blood:	n/a	n/a
45	POLR2A	chr12:21810184-21811214	A549	lung:	n/a	n/a
46	USF1	chr12:21810099-21811028	A549	lung:	n/a	chr12:21810532-21810548
47	EP300	chr12:21810628-21811079	GM12878	blood:	n/a	n/a
48	POLR2A	chr12:21809891-21811205	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr12:21809874-21811173	K562	blood:	n/a	n/a
50	SP4	chr12:21810178-21811127	H1-hESC	embryonic stem cell:	n/a	chr12:21810783-21810799 chr12:21810781-21810797 chr12:21810856-21810867

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:21810750-21810800	Hepatocyte	liver:	n/a
2	chr12:21810750-21810800	HCM	heart:	n/a
3	chr12:21810750-21810800	ProgFib	skin:	n/a
4	chr12:21810759-21810809	U87	brain:	n/a
5	chr12:21810750-21810800	PANC-1	pancreas:	n/a
6	chr12:21810750-21810800	HMEC	breast:	n/a
7	chr12:21810759-21810809	H1-hESC	embryonic stem cell:	embryo
8	chr12:21810750-21810800	BJ	skin:	n/a
9	chr12:21810759-21810809	HRCEpiC	kidney:	n/a
10	chr12:21810750-21810800	ECC-1	luminal epithelium:	n/a
11	chr12:21810750-21810800	SK-N-SH	brain:	n/a
12	chr12:21810759-21810809	AG10803	skin:	n/a
13	chr12:21810750-21810800	ovcar-3	ovarian:	n/a
14	chr12:21810750-21810800	K562	blood:	n/a
15	chr12:21810759-21810809	AG09319	gingival:	n/a
16	chr12:21810750-21810800	GM12891	blood:	n/a
17	chr12:21810759-21810809	AG04450	lung:	fetal
18	chr12:21810750-21810800	MCF-7	breast:	n/a
19	chr12:21810750-21810800	HIPEpiC	eye:	n/a
20	chr12:21810759-21810809	HCM	heart:	n/a
21	chr12:21810759-21810809	PrEC	prostate:	n/a
22	chr12:21810750-21810800	NH-A	brain:	n/a
23	chr12:21810750-21810800	HPAEpiC	pulmonary alveolar:	n/a
24	chr12:21810759-21810809	AG09309	skin:	n/a
25	chr12:21810750-21810800	NHDF-neo	bronchial:	n/a
26	chr12:21810750-21810800	AG04450	lung:	fetal
27	chr12:21810759-21810809	ECC-1	luminal epithelium:	n/a
28	chr12:21810759-21810809	SKMC	muscle:	n/a
29	chr12:21810759-21810809	NHBE	bronchial:	n/a
30	chr12:21810759-21810809	NT2-D1	testis:	n/a
31	chr12:21810750-21810800	GM19239	blood:	n/a
32	chr12:21810759-21810809	A549	lung:	n/a
33	chr12:21810759-21810809	HepG2	liver:	n/a
34	chr12:21810759-21810809	T-47D	breast:	n/a
35	chr12:21810759-21810809	PANC-1	pancreas:	n/a
36	chr12:21810759-21810809	Hepatocyte	liver:	n/a
37	chr12:21810750-21810800	GM06990	blood:	n/a
38	chr12:21810759-21810809	HCPEpiC	choroid plexus:	n/a
39	chr12:21810750-21810800	AG10803	skin:	n/a
40	chr12:21810750-21810800	HRCEpiC	kidney:	n/a
41	chr12:21810759-21810809	NH-A	brain:	n/a
42	chr12:21810750-21810800	NB4	blood:	n/a
43	chr12:21810759-21810809	HRE	kidney:	n/a
44	chr12:21810759-21810809	SAEC	small airway:	n/a
45	chr12:21810750-21810800	SK-N-SH_RA	brain:	n/a
46	chr12:21810759-21810809	HAEpiC	amniotic membrane:	n/a
47	chr12:21810759-21810809	MCF10A-Er-Src	breast:	n/a
48	chr12:21810750-21810800	SKMC	muscle:	n/a
49	chr12:21810759-21810809	GM12878	blood:	n/a
50	chr12:21810759-21810809	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:21810505..21811197-chr17:46124997..46125550,2	NB4	blood:
2	chr12:21589456..21592020-chr12:21808889..21812230,4	K562	blood:
3	chr12:21809057..21812387-chr12:22198017..22201408,5	K562	blood:
4	chr12:21653197..21655257-chr12:21809726..21811694,2	K562	blood:
5	chr12:21810491..21811172-chr12:44200036..44200537,2	NB4	blood:
6	chr12:21810464..21811008-chr8:22550573..22551514,2	NB4	blood:
7	chr12:21809958..21810886-chr16:4526148..4526888,2	HCT-116	colon:
8	chr12:21810600..21811356-chr13:50570159..50570946,2	NB4	blood:
9	chr1:153508402..153509226-chr12:21810151..21810795,2	Hela-S3	cervix:
10	chr12:21810330..21811252-chr20:47662492..47663207,2	NB4	blood:
11	chr12:21810504..21811181-chr2:85766118..85766656,2	HCT-116	colon:

Variant related genes	Relation type
LDHB	TF binding region
ENSG00000256615	TF binding region
LDHB	CpG island
ENSG00000256615	CpG island
ENSG00000179388	Chromatin interaction
ENSG00000227431	Chromatin interaction
ENSG00000111726	Chromatin interaction
ENSG00000264864	Chromatin interaction
ENSG00000151239	Chromatin interaction
ENSG00000121350	Chromatin interaction
ENSG00000004700	Chromatin interaction
ENSG00000153406	Chromatin interaction
ENSG00000111711	Chromatin interaction
ENSG00000197956	Chromatin interaction
ENSG00000124207	Chromatin interaction
ENSG00000204977	Chromatin interaction
ENSG00000103415	Chromatin interaction
ENSG00000168906	Chromatin interaction
ENSG00000263412	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs55812798	0.86[AFR][1000 genomes]
rs55839871	0.86[AFR][1000 genomes]
rs56172202	0.86[AFR][1000 genomes]
rs56224342	0.86[AFR][1000 genomes]
rs57232038	0.86[AFR][1000 genomes]
rs57749821	0.86[AFR][1000 genomes]
rs58679435	0.86[AFR][1000 genomes]
rs59824507	0.86[AFR][1000 genomes]
rs74066740	0.86[AFR][1000 genomes]
rs74066764	0.86[AFR][1000 genomes]
rs74066768	0.86[AFR][1000 genomes]
rs74066772	0.86[AFR][1000 genomes]
rs74066775	0.86[AFR][1000 genomes]
rs74066794	0.86[AFR][1000 genomes]
rs74066795	0.86[AFR][1000 genomes]
rs74067605	0.86[AFR][1000 genomes]
rs74067613	0.86[AFR][1000 genomes]
rs74067615	0.86[AFR][1000 genomes]
rs74067617	0.86[AFR][1000 genomes]
rs74067618	0.86[AFR][1000 genomes]
rs74067619	0.86[AFR][1000 genomes]
rs74067620	0.86[AFR][1000 genomes]
rs74067622	0.86[AFR][1000 genomes]
rs74067623	0.86[AFR][1000 genomes]
rs74067624	0.86[AFR][1000 genomes]
rs74067627	0.86[AFR][1000 genomes]
rs74067629	0.86[AFR][1000 genomes]
rs74067644	0.86[AFR][1000 genomes]
rs74067645	0.86[AFR][1000 genomes]
rs74067646	0.86[AFR][1000 genomes]
rs74067649	0.86[AFR][1000 genomes]
rs74067651	0.86[AFR][1000 genomes]
rs74067652	0.86[AFR][1000 genomes]
rs74067653	0.86[AFR][1000 genomes]
rs74067654	0.86[AFR][1000 genomes]
rs74067657	0.86[AFR][1000 genomes]
rs74067658	0.86[AFR][1000 genomes]
rs74067680	0.86[AFR][1000 genomes]
rs74069308	0.86[AFR][1000 genomes]
rs74069309	0.86[AFR][1000 genomes]
rs74069310	0.86[AFR][1000 genomes]
rs74069324	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv469164	chr12:21688900-21966701	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv557744	chr12:21688900-21966701	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv832349	chr12:21749093-21930695	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr12:21807600-21811400	Active TSS	GM12878-XiMat	blood
2	chr12:21808200-21810800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:21808200-21811000	Active TSS	Primary T cells fromperipheralblood	blood
4	chr12:21808200-21811200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr12:21808200-21811200	Active TSS	K562	blood
6	chr12:21808400-21811200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:21808400-21811200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:21808600-21810800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:21808600-21810800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:21808600-21810800	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr12:21808600-21810800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:21808600-21811200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:21808600-21811200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:21808600-21811200	Active TSS	Brain Substantia Nigra	brain
15	chr12:21808600-21811200	Active TSS	Ovary	ovary
16	chr12:21808600-21811200	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr12:21808600-21811200	Active TSS	Right Ventricle	heart
18	chr12:21808600-21811400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:21808600-21811800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:21808800-21811200	Active TSS	H1 Cell Line	embryonic stem cell
21	chr12:21808800-21811200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:21808800-21811200	Active TSS	Psoas Muscle	Psoas
23	chr12:21808800-21811600	Active TSS	Fetal Kidney	kidney
24	chr12:21809000-21810800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:21809000-21810800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:21809000-21811200	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr12:21809000-21811200	Active TSS	H9 Cell Line	embryonic stem cell
28	chr12:21809000-21811200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:21809000-21811200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr12:21809000-21811200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:21809000-21811200	Active TSS	Fetal Muscle Leg	muscle
32	chr12:21809000-21811200	Active TSS	Fetal Thymus	thymus
33	chr12:21809000-21811600	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr12:21809000-21811600	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr12:21809000-21811800	Active TSS	NHLF	lung
36	chr12:21809200-21811200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:21809200-21811200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:21809200-21811200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:21809200-21811200	Active TSS	Muscle Satellite Cultured Cells	--
40	chr12:21809200-21811200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:21809200-21811200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:21809200-21811200	Active TSS	Duodenum Mucosa	Duodenum
43	chr12:21809200-21811200	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr12:21809200-21811200	Active TSS	Fetal Heart	heart
45	chr12:21809200-21811200	Active TSS	Left Ventricle	heart
46	chr12:21809200-21811400	Active TSS	Fetal Intestine Large	intestine
47	chr12:21809200-21811400	Active TSS	HSMM	muscle
48	chr12:21809400-21811200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:21809400-21811200	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr12:21809400-21811200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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