Variant report

Variant	rs74093637
Chromosome Location	chr12:57998364-57998365
allele	A/C
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	chr12:57998182-57998566	K562	blood:	n/a	n/a
2	MAX	chr12:57998246-57999028	ECC-1	luminal epithelium:	n/a	chr12:57998373-57998383 chr12:57998608-57998617
3	TAF1	chr12:57997679-57998688	ECC-1	luminal epithelium:	n/a	n/a
4	USF1	chr12:57998132-57998900	SK-N-SH	brain:	n/a	chr12:57998862-57998878 chr12:57998756-57998772
5	YY1	chr12:57998149-57998723	A549	lung:	n/a	chr12:57998620-57998630 chr12:57998399-57998411 chr12:57998400-57998422 chr12:57998400-57998410
6	YY1	chr12:57998150-57998680	H1-hESC	embryonic stem cell:	n/a	chr12:57998620-57998630 chr12:57998399-57998411 chr12:57998400-57998422 chr12:57998400-57998410
7	USF1	chr12:57998264-57998782	A549	lung:	n/a	chr12:57998756-57998772
8	USF1	chr12:57998223-57999027	ECC-1	luminal epithelium:	n/a	chr12:57998862-57998878 chr12:57998756-57998772
9	USF1	chr12:57998257-57998965	SK-N-SH_RA	brain:	n/a	chr12:57998862-57998878 chr12:57998756-57998772
10	CTCF	chr12:57998300-57998450	GM12871	blood:	n/a	n/a
11	USF1	chr12:57998344-57998748	A549	lung:	n/a	n/a
12	USF1	chr12:57998216-57998700	A549	lung:	n/a	n/a
13	POLR2A	chr12:57998121-57998673	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr12:57998129-57998669	GM12891	blood:	n/a	n/a
15	YY1	chr12:57998045-57998786	SK-N-SH	brain:	n/a	chr12:57998620-57998630 chr12:57998399-57998411 chr12:57998400-57998422 chr12:57998400-57998410
16	ZBTB7A	chr12:57997906-57999285	ECC-1	luminal epithelium:	n/a	n/a
17	USF1	chr12:57998142-57998996	H1-hESC	embryonic stem cell:	n/a	chr12:57998862-57998878 chr12:57998756-57998772
18	POLR2A	chr12:57998155-57999228	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr12:57998283-57998675	GM12892	blood:	n/a	n/a
20	POLR2A	chr12:57998208-57998667	GM12878	blood:	n/a	n/a
21	YY1	chr12:57998167-57998959	GM12878	blood:	n/a	chr12:57998620-57998630 chr12:57998399-57998411 chr12:57998400-57998422 chr12:57998400-57998410
22	CTCF	chr12:57998280-57998430	AG04449	skin:	n/a	n/a
23	YY1	chr12:57998218-57998859	NT2-D1	testis:	n/a	chr12:57998620-57998630 chr12:57998399-57998411 chr12:57998400-57998422 chr12:57998400-57998410
24	YY1	chr12:57998146-57999061	GM12892	blood:	n/a	chr12:57998620-57998630 chr12:57998399-57998411 chr12:57998400-57998422 chr12:57998400-57998410
25	POLR2A	chr12:57998358-57998687	MCF-7	breast:	n/a	n/a
26	CTCF	chr12:57998320-57998470	BJ	skin:	n/a	n/a
27	YY1	chr12:57998222-57998692	K562	blood:	n/a	chr12:57998620-57998630 chr12:57998399-57998411 chr12:57998400-57998422 chr12:57998400-57998410
28	YY1	chr12:57997896-57999282	SK-N-SH	brain:	n/a	chr12:57998620-57998630 chr12:57998399-57998411 chr12:57998400-57998422 chr12:57998400-57998410
29	POLR2A	chr12:57998263-57998700	GM12878	blood:	n/a	n/a
30	POLR2A	chr12:57997422-57998432	PANC-1	pancreas:	n/a	n/a
31	ZBTB7A	chr12:57997925-57999272	ECC-1	luminal epithelium:	n/a	n/a
32	CHD2	chr12:57998281-57998511	H1-hESC	embryonic stem cell:	n/a	n/a
33	TAF1	chr12:57998205-57998670	SK-N-SH	brain:	n/a	n/a
34	YY1	chr12:57998196-57998677	GM12892	blood:	n/a	chr12:57998620-57998630 chr12:57998399-57998411 chr12:57998400-57998422 chr12:57998400-57998410
35	YY1	chr12:57998085-57999060	SK-N-SH_RA	brain:	n/a	chr12:57998620-57998630 chr12:57998399-57998411 chr12:57998400-57998422 chr12:57998400-57998410
36	POLR2A	chr12:57998258-57998672	GM12878	blood:	n/a	n/a
37	POLR2A	chr12:57998253-57999112	HUVEC	blood vessel:	n/a	n/a
38	ZNF263	chr12:57998131-57998653	HEK293-T-REx	kidney:	n/a	chr12:57998417-57998426 chr12:57998503-57998512 chr12:57998497-57998518
39	SIN3AK20	chr12:57998185-57998663	H1-hESC	embryonic stem cell:	n/a	n/a
40	USF1	chr12:57998281-57998790	A549	lung:	n/a	chr12:57998756-57998772
41	GTF2F1	chr12:57998194-57998606	H1-hESC	embryonic stem cell:	n/a	n/a
42	TAF1	chr12:57998183-57998670	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr12:57998320-57998470	HAc	cerebellar:	n/a	n/a
44	CTCF	chr12:57998260-57998410	AG04449	skin:	n/a	n/a
45	RUNX3	chr12:57998299-57998650	GM12878	blood:	n/a	n/a
46	POLR2A	chr12:57997384-57998734	MCF-7	breast:	n/a	n/a
47	USF1	chr12:57998116-57999077	ECC-1	luminal epithelium:	n/a	chr12:57998862-57998878 chr12:57998756-57998772
48	USF2	chr12:57998336-57998761	H1-hESC	embryonic stem cell:	n/a	n/a
49	YY1	chr12:57998235-57999082	HepG2	liver:	n/a	chr12:57998620-57998630 chr12:57998399-57998411 chr12:57998400-57998422 chr12:57998400-57998410
50	YY1	chr12:57998104-57999022	GM12878	blood:	n/a	chr12:57998620-57998630 chr12:57998399-57998411 chr12:57998400-57998422 chr12:57998400-57998410

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:57998317-57998367	H1-hESC	embryonic stem cell:	embryo
2	chr12:57998317-57998367	U87	brain:	n/a
3	chr12:57998317-57998367	MCF10A-Er-Src	breast:	n/a
4	chr12:57998317-57998367	Hepatocyte	liver:	n/a
5	chr12:57998317-57998367	HRPEpiC	eye:	n/a
6	chr12:57998317-57998367	MCF-7	breast:	n/a
7	chr12:57998317-57998367	AG04450	lung:	fetal
8	chr12:57998317-57998367	HCT-116	colon:	n/a
9	chr12:57998317-57998367	HCM	heart:	n/a
10	chr12:57998317-57998367	A549	lung:	n/a
11	chr12:57998317-57998367	SAEC	small airway:	n/a
12	chr12:57998317-57998367	HCPEpiC	choroid plexus:	n/a
13	chr12:57998317-57998367	NHBE	bronchial:	n/a
14	chr12:57998317-57998367	Jurkat	blood:	n/a
15	chr12:57998317-57998367	NB4	blood:	n/a
16	chr12:57998317-57998367	AG10803	skin:	n/a
17	chr12:57998317-57998367	Hela-S3	cervix:	n/a
18	chr12:57998317-57998367	HRCEpiC	kidney:	n/a
19	chr12:57998317-57998367	ovcar-3	ovarian:	n/a
20	chr12:57998317-57998367	HAEpiC	amniotic membrane:	n/a
21	chr12:57998317-57998367	IMR90	lung:	fetal
22	chr12:57998317-57998367	GM06990	blood:	n/a
23	chr12:57998317-57998367	K562	blood:	n/a
24	chr12:57998317-57998367	HCF	heart:	n/a
25	chr12:57998317-57998367	HIPEpiC	eye:	n/a
26	chr12:57998317-57998367	SK-N-SH	brain:	n/a
27	chr12:57998317-57998367	CMK	blood:	n/a
28	chr12:57998317-57998367	BE2_C	brain:	n/a
29	chr12:57998317-57998367	GM12891	blood:	n/a
30	chr12:57998317-57998367	NT2-D1	testis:	n/a
31	chr12:57998317-57998367	NHDF-neo	bronchial:	n/a
32	chr12:57998317-57998367	LNCaP	prostate:	n/a
33	chr12:57998317-57998367	T-47D	breast:	n/a
34	chr12:57998317-57998367	RPTEC	kidney:	n/a
35	chr12:57998317-57998367	HUVEC	blood vessel:	n/a
36	chr12:57998317-57998367	HMEC	breast:	n/a
37	chr12:57998317-57998367	PFSK-1	brain:	n/a
38	chr12:57998317-57998367	AoSMC	blood vessel:	n/a
39	chr12:57998317-57998367	HEK293	kidney:	embryo
40	chr12:57998317-57998367	AG09319	gingival:	n/a
41	chr12:57998317-57998367	SK-N-SH_RA	brain:	n/a
42	chr12:57998317-57998367	SKMC	muscle:	n/a
43	chr12:57998317-57998367	HRE	kidney:	n/a
44	chr12:57998317-57998367	GM19239	blood:	n/a
45	chr12:57998317-57998367	PrEC	prostate:	n/a
46	chr12:57998317-57998367	HPAEpiC	pulmonary alveolar:	n/a
47	chr12:57998317-57998367	Caco-2	colon:	n/a
48	chr12:57998317-57998367	PANC-1	pancreas:	n/a
49	chr12:57998317-57998367	ECC-1	luminal epithelium:	n/a
50	chr12:57998317-57998367	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:57998188..58000440-chr12:58014339..58016922,2	MCF-7	breast:
2	chr12:57824494..57826362-chr12:57997412..57999477,2	K562	blood:
3	chr12:57913753..57916510-chr12:57996799..57998980,2	MCF-7	breast:
4	chr12:57997608..58000545-chr12:58238111..58240464,2	MCF-7	breast:
5	chr12:57983454..57989400-chr12:57989791..58002327,29	MCF-7	breast:
6	chr12:57940405..57942301-chr12:57997757..58000737,2	MCF-7	breast:
7	chr12:57997114..58001112-chr12:58025485..58030490,5	MCF-7	breast:
8	chr12:57997150..58000080-chr12:58158932..58161067,2	MCF-7	breast:

Variant related genes	Relation type
DTX3	TF binding region
DTX3	CpG island
ENSG00000111012	Chromatin interaction
ENSG00000175215	Chromatin interaction
ENSG00000258001	Chromatin interaction
ENSG00000179912	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000135502	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000166908	Chromatin interaction
ENSG00000175203	Chromatin interaction
ENSG00000135454	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55640208	1.00[AFR][1000 genomes]
rs56009009	1.00[AFR][1000 genomes]
rs74094227	1.00[AFR][1000 genomes]
rs74096250	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv559034	chr12:57859932-58012233	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
6	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
7	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
8	nsv541504	chr12:57958701-58062311	Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 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	chr12:57985800-57998400	Weak transcription	HSMMtube	muscle
2	chr12:57987200-57998400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:57991000-57998600	Weak transcription	Hela-S3	cervix
4	chr12:57993000-57999600	Weak transcription	K562	blood
5	chr12:57996400-57998400	Weak transcription	Liver	Liver
6	chr12:57997200-57998600	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr12:57997400-57998400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr12:57997400-57998800	Enhancers	HMEC	breast
9	chr12:57997400-57999200	Active TSS	Brain Anterior Caudate	brain
10	chr12:57997600-57998400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:57997600-57998400	Flanking Active TSS	Fetal Brain Male	brain
12	chr12:57997600-57998600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:57997600-57998600	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr12:57997600-57999000	Active TSS	Fetal Brain Female	brain
15	chr12:57997600-57999600	Active TSS	Colon Smooth Muscle	Colon
16	chr12:57997800-57998400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr12:57997800-57998600	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr12:57997800-57998600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:57997800-57998600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:57997800-57998600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr12:57997800-57998800	Enhancers	Spleen	Spleen
22	chr12:57997800-57999000	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr12:57997800-57999200	Active TSS	H9 Cell Line	embryonic stem cell
24	chr12:57997800-57999200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:57997800-57999400	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr12:57997800-57999400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr12:57997800-57999400	Active TSS	Ovary	ovary
28	chr12:57997800-57999600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:57997800-57999600	Active TSS	Aorta	Aorta
30	chr12:57997800-57999800	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr12:57998000-57998400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:57998000-57998400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:57998000-57998400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:57998000-57998400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:57998000-57998400	Active TSS	Primary hematopoietic stem cells	blood
36	chr12:57998000-57998400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr12:57998000-57998400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr12:57998000-57998400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:57998000-57998400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
40	chr12:57998000-57998400	Flanking Active TSS	Pancreas	Pancrea
41	chr12:57998000-57998400	Active TSS	Psoas Muscle	Psoas
42	chr12:57998000-57998400	Flanking Active TSS	NH-A	brain
43	chr12:57998000-57998600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:57998000-57998600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr12:57998000-57998600	Flanking Active TSS	A549	lung
46	chr12:57998000-57998600	Flanking Active TSS	HUVEC	blood vessel
47	chr12:57998000-57998600	Flanking Active TSS	NHEK	skin
48	chr12:57998000-57998800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:57998000-57999000	Active TSS	Brain Angular Gyrus	brain
50	chr12:57998000-57999200	Active TSS	H1 Cell Line	embryonic stem cell

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