Variant report

Variant	rs57842305
Chromosome Location	chr12:21811100-21811101
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	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	TBL1XR1	chr12:21810696-21811101	K562	blood:	n/a	n/a
5	MAZ	chr12:21809921-21811110	K562	blood:	n/a	chr12:21810341-21810352 chr12:21810784-21810794 chr12:21810919-21810929 chr12:21810137-21810146 chr12:21810781-21810791
6	POLR2A	chr12:21809803-21811155	PBDE	blood:	n/a	n/a
7	POLR2A	chr12:21809612-21811117	H1-hESC	embryonic stem cell:	n/a	n/a
8	TBP	chr12:21810476-21811104	GM12878	blood:	n/a	n/a
9	ATF3	chr12:21810097-21811159	A549	lung:	n/a	chr12:21810786-21810795
10	GATA3	chr12:21810050-21811195	A549	lung:	n/a	chr12:21810640-21810648 chr12:21810124-21810134
11	POLR2A	chr12:21809698-21811173	GM12892	blood:	n/a	n/a
12	RELA	chr12:21809755-21811122	GM18505	blood:	n/a	n/a
13	TAF1	chr12:21810409-21811153	PFSK-1	brain:	n/a	n/a
14	REST	chr12:21809764-21811116	HL-60	blood:	n/a	chr12:21810192-21810200 chr12:21810322-21810335 chr12:21810400-21810409 chr12:21809930-21809948
15	YY1	chr12:21809902-21811112	ECC-1	luminal epithelium:	n/a	chr12:21810786-21810795 chr12:21810503-21810514 chr12:21810783-21810797
16	JUND	chr12:21809825-21811135	A549	lung:	n/a	n/a
17	POLR2A	chr12:21809802-21811128	IMR90	lung:	n/a	n/a
18	POLR2A	chr12:21809685-21811148	K562	blood:	n/a	n/a
19	POLR2A	chr12:21810401-21811102	U87	brain:	n/a	n/a
20	REST	chr12:21810431-21811102	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr12:21809471-21811125	GM12878	blood:	n/a	n/a
22	POLR2A	chr12:21810184-21811214	A549	lung:	n/a	n/a
23	POLR2A	chr12:21809891-21811205	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr12:21809874-21811173	K562	blood:	n/a	n/a
25	SP4	chr12:21810178-21811127	H1-hESC	embryonic stem cell:	n/a	chr12:21810783-21810799 chr12:21810781-21810797 chr12:21810856-21810867
26	TAF1	chr12:21810248-21811157	GM12878	blood:	n/a	n/a
27	POLR2A	chr12:21809778-21811245	GM19193	blood:	n/a	n/a
28	POLR2A	chr12:21810464-21811122	K562	blood:	n/a	n/a
29	MAX	chr12:21809713-21811102	H1-hESC	embryonic stem cell:	n/a	chr12:21810341-21810352 chr12:21810784-21810794 chr12:21810919-21810929 chr12:21810137-21810146 chr12:21810781-21810791
30	POLR2A	chr12:21809796-21811220	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr12:21809974-21811155	K562	blood:	n/a	n/a
32	POLR2A	chr12:21809706-21811196	GM12892	blood:	n/a	n/a
33	TBP	chr12:21809785-21811168	K562	blood:	n/a	n/a
34	YY1	chr12:21810042-21811161	SK-N-SH	brain:	n/a	chr12:21810786-21810795 chr12:21810503-21810514 chr12:21810783-21810797
35	POLR2A	chr12:21809865-21811232	PFSK-1	brain:	n/a	n/a
36	SETDB1	chr12:21810184-21811581	U2OS	brain:	n/a	n/a
37	POLR2A	chr12:21809282-21811114	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr12:21808471-21811183	GM12891	blood:	n/a	n/a
39	POLR2A	chr12:21809847-21811159	GM18951	blood:	n/a	n/a
40	POLR2A	chr12:21809782-21811149	GM18505	blood:	n/a	n/a
41	NFIC	chr12:21809774-21811100	GM12878	blood:	n/a	n/a
42	TAF1	chr12:21809834-21811181	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr12:21808476-21811157	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr12:21810155-21811179	HCT-116	colon:	n/a	n/a
45	SP1	chr12:21810549-21811179	H1-hESC	embryonic stem cell:	n/a	chr12:21810858-21810867 chr12:21810786-21810796 chr12:21810785-21810797 chr12:21810776-21810790 chr12:21810785-21810797 chr12:21810787-21810796 chr12:21810859-21810872 chr12:21810913-21810927 chr12:21810787-21810796 chr12:21810786-21810796 chr12:21810782-21810796 chr12:21810786-21810795 chr12:21810856-21810867
46	POLR2A	chr12:21809767-21811165	GM12892	blood:	n/a	n/a
47	POLR2A	chr12:21809915-21811191	PANC-1	pancreas:	n/a	n/a
48	POLR2A	chr12:21809652-21811310	H1-hESC	embryonic stem cell:	n/a	n/a
49	EP300	chr12:21810572-21811116	K562	blood:	n/a	n/a
50	GTF2F1	chr12:21810343-21811109	H1-hESC	embryonic stem cell:	n/a	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	chr12:21810600..21811356-chr13:50570159..50570946,2	NB4	blood:
7	chr12:21810330..21811252-chr20:47662492..47663207,2	NB4	blood:
8	chr12:21810504..21811181-chr2:85766118..85766656,2	HCT-116	colon:

Variant related genes	Relation type
LDHB	TF binding region
ENSG00000256615	TF binding region
ENSG00000121350	Chromatin interaction
ENSG00000168906	Chromatin interaction
ENSG00000111711	Chromatin interaction
ENSG00000204977	Chromatin interaction
ENSG00000111726	Chromatin interaction
ENSG00000151239	Chromatin interaction
ENSG00000263412	Chromatin interaction
ENSG00000124207	Chromatin interaction
ENSG00000264864	Chromatin interaction
ENSG00000227431	Chromatin interaction
ENSG00000004700	Chromatin interaction

Extended variants
information (count: 162 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:157)

rs_ID	r²[population]
rs1012354	1.00[EUR][1000 genomes]
rs1030452	1.00[EUR][1000 genomes]
rs1030453	1.00[EUR][1000 genomes]
rs1072992	1.00[EUR][1000 genomes]
rs1072993	1.00[EUR][1000 genomes]
rs10841863	1.00[EUR][1000 genomes]
rs10841864	1.00[EUR][1000 genomes]
rs10841865	1.00[EUR][1000 genomes]
rs10841866	1.00[EUR][1000 genomes]
rs11829561	1.00[EUR][1000 genomes]
rs11835091	1.00[EUR][1000 genomes]
rs1427830	1.00[EUR][1000 genomes]
rs1478293	1.00[EUR][1000 genomes]
rs1540405	1.00[EUR][1000 genomes]
rs1614040	1.00[EUR][1000 genomes]
rs1616390	1.00[EUR][1000 genomes]
rs1624003	1.00[EUR][1000 genomes]
rs1626167	1.00[EUR][1000 genomes]
rs1626303	1.00[EUR][1000 genomes]
rs1629683	1.00[EUR][1000 genomes]
rs1630514	1.00[EUR][1000 genomes]
rs1650272	1.00[EUR][1000 genomes]
rs1650277	1.00[EUR][1000 genomes]
rs1650278	1.00[EUR][1000 genomes]
rs1650279	1.00[EUR][1000 genomes]
rs1650280	1.00[EUR][1000 genomes]
rs1650282	1.00[EUR][1000 genomes]
rs1650285	1.00[EUR][1000 genomes]
rs1650286	1.00[EUR][1000 genomes]
rs1650287	1.00[EUR][1000 genomes]
rs1650288	1.00[EUR][1000 genomes]
rs1650289	1.00[EUR][1000 genomes]
rs1650290	1.00[EUR][1000 genomes]
rs1650291	1.00[EUR][1000 genomes]
rs1650292	1.00[EUR][1000 genomes]
rs1650293	1.00[EUR][1000 genomes]
rs1650295	1.00[EUR][1000 genomes]
rs1650297	1.00[EUR][1000 genomes]
rs1650300	1.00[EUR][1000 genomes]
rs1650301	1.00[EUR][1000 genomes]
rs1650305	1.00[EUR][1000 genomes]
rs1650306	1.00[EUR][1000 genomes]
rs1650310	1.00[EUR][1000 genomes]
rs1650312	1.00[EUR][1000 genomes]
rs1650314	1.00[EUR][1000 genomes]
rs1650315	1.00[EUR][1000 genomes]
rs1650318	1.00[EUR][1000 genomes]
rs1677073	1.00[EUR][1000 genomes]
rs1677074	1.00[EUR][1000 genomes]
rs1677078	1.00[EUR][1000 genomes]
rs1677079	1.00[EUR][1000 genomes]
rs1677085	1.00[EUR][1000 genomes]
rs1677088	1.00[EUR][1000 genomes]
rs1677090	1.00[EUR][1000 genomes]
rs1677092	1.00[EUR][1000 genomes]
rs1677093	1.00[EUR][1000 genomes]
rs1677094	1.00[EUR][1000 genomes]
rs1677095	1.00[EUR][1000 genomes]
rs1677096	1.00[EUR][1000 genomes]
rs1677097	1.00[EUR][1000 genomes]
rs1677098	1.00[EUR][1000 genomes]
rs1677100	1.00[EUR][1000 genomes]
rs1677104	1.00[EUR][1000 genomes]
rs1677105	1.00[EUR][1000 genomes]
rs1677106	1.00[EUR][1000 genomes]
rs1677107	1.00[EUR][1000 genomes]
rs1677109	1.00[EUR][1000 genomes]
rs1677110	1.00[EUR][1000 genomes]
rs1677111	1.00[EUR][1000 genomes]
rs1677113	1.00[EUR][1000 genomes]
rs1677118	1.00[EUR][1000 genomes]
rs1677124	1.00[EUR][1000 genomes]
rs1677125	1.00[EUR][1000 genomes]
rs1677126	1.00[EUR][1000 genomes]
rs1677127	1.00[EUR][1000 genomes]
rs1677131	1.00[EUR][1000 genomes]
rs1677132	1.00[EUR][1000 genomes]
rs1677133	1.00[EUR][1000 genomes]
rs1677135	1.00[EUR][1000 genomes]
rs1677136	1.00[EUR][1000 genomes]
rs1677138	1.00[EUR][1000 genomes]
rs1677139	1.00[EUR][1000 genomes]
rs1677141	1.00[EUR][1000 genomes]
rs1813751	1.00[EUR][1000 genomes]
rs2077044	1.00[EUR][1000 genomes]
rs2217238	1.00[EUR][1000 genomes]
rs255449	1.00[EUR][1000 genomes]
rs255452	1.00[EUR][1000 genomes]
rs2617117	1.00[EUR][1000 genomes]
rs4237915	1.00[EUR][1000 genomes]
rs4438091	1.00[EUR][1000 genomes]
rs4762714	1.00[EUR][1000 genomes]
rs4762716	1.00[EUR][1000 genomes]
rs4762856	1.00[EUR][1000 genomes]
rs4762858	1.00[EUR][1000 genomes]
rs4762859	1.00[EUR][1000 genomes]
rs4762862	1.00[EUR][1000 genomes]
rs56013787	1.00[EUR][1000 genomes]
rs56035640	1.00[EUR][1000 genomes]
rs56066637	1.00[EUR][1000 genomes]
rs56160727	1.00[EUR][1000 genomes]
rs56271252	1.00[EUR][1000 genomes]
rs56729740	1.00[EUR][1000 genomes]
rs56871137	1.00[EUR][1000 genomes]
rs56994698	1.00[EUR][1000 genomes]
rs57115374	1.00[EUR][1000 genomes]
rs57200111	1.00[EUR][1000 genomes]
rs57338327	1.00[EUR][1000 genomes]
rs58465040	1.00[EUR][1000 genomes]
rs58527132	1.00[EUR][1000 genomes]
rs59247664	1.00[EUR][1000 genomes]
rs59468844	1.00[EUR][1000 genomes]
rs59541120	1.00[EUR][1000 genomes]
rs60486179	1.00[EUR][1000 genomes]
rs60632805	1.00[EUR][1000 genomes]
rs60652753	1.00[EUR][1000 genomes]
rs61187969	1.00[EUR][1000 genomes]
rs61482461	1.00[EUR][1000 genomes]
rs7135799	1.00[EUR][1000 genomes]
rs7299674	1.00[EUR][1000 genomes]
rs7299680	1.00[EUR][1000 genomes]
rs7300051	1.00[EUR][1000 genomes]
rs73249228	1.00[EUR][1000 genomes]
rs73249231	1.00[EUR][1000 genomes]
rs73249234	1.00[EUR][1000 genomes]
rs73249241	1.00[EUR][1000 genomes]
rs73249265	1.00[EUR][1000 genomes]
rs73249266	1.00[EUR][1000 genomes]
rs73249268	1.00[EUR][1000 genomes]
rs73249276	1.00[EUR][1000 genomes]
rs73249282	1.00[EUR][1000 genomes]
rs73262386	1.00[EUR][1000 genomes]
rs736047	1.00[EUR][1000 genomes]
rs74066770	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74067628	1.00[EUR][1000 genomes]
rs74069327	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74069332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74069333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74069343	1.00[EUR][1000 genomes]
rs74069345	1.00[EUR][1000 genomes]
rs74069349	1.00[EUR][1000 genomes]
rs74069350	1.00[EUR][1000 genomes]
rs74069351	1.00[EUR][1000 genomes]
rs74069352	1.00[EUR][1000 genomes]
rs74069353	1.00[EUR][1000 genomes]
rs74069354	1.00[EUR][1000 genomes]
rs74069355	1.00[EUR][1000 genomes]
rs74069356	1.00[EUR][1000 genomes]
rs74069357	1.00[EUR][1000 genomes]
rs74069362	1.00[EUR][1000 genomes]
rs74069363	1.00[EUR][1000 genomes]
rs759931	1.00[EUR][1000 genomes]
rs759932	1.00[EUR][1000 genomes]
rs759933	1.00[EUR][1000 genomes]
rs759934	1.00[EUR][1000 genomes]
rs7974267	1.00[EUR][1000 genomes]
rs962947	1.00[EUR][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:114 , 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	chr12:21808200-21811200	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr12:21808200-21811200	Active TSS	K562	blood
4	chr12:21808400-21811200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:21808400-21811200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:21808600-21811200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:21808600-21811200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:21808600-21811200	Active TSS	Brain Substantia Nigra	brain
9	chr12:21808600-21811200	Active TSS	Ovary	ovary
10	chr12:21808600-21811200	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr12:21808600-21811200	Active TSS	Right Ventricle	heart
12	chr12:21808600-21811400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:21808600-21811800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:21808800-21811200	Active TSS	H1 Cell Line	embryonic stem cell
15	chr12:21808800-21811200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:21808800-21811200	Active TSS	Psoas Muscle	Psoas
17	chr12:21808800-21811600	Active TSS	Fetal Kidney	kidney
18	chr12:21809000-21811200	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr12:21809000-21811200	Active TSS	H9 Cell Line	embryonic stem cell
20	chr12:21809000-21811200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:21809000-21811200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr12:21809000-21811200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:21809000-21811200	Active TSS	Fetal Muscle Leg	muscle
24	chr12:21809000-21811200	Active TSS	Fetal Thymus	thymus
25	chr12:21809000-21811600	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr12:21809000-21811600	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr12:21809000-21811800	Active TSS	NHLF	lung
28	chr12:21809200-21811200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:21809200-21811200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:21809200-21811200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:21809200-21811200	Active TSS	Muscle Satellite Cultured Cells	--
32	chr12:21809200-21811200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:21809200-21811200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:21809200-21811200	Active TSS	Duodenum Mucosa	Duodenum
35	chr12:21809200-21811200	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr12:21809200-21811200	Active TSS	Fetal Heart	heart
37	chr12:21809200-21811200	Active TSS	Left Ventricle	heart
38	chr12:21809200-21811400	Active TSS	Fetal Intestine Large	intestine
39	chr12:21809200-21811400	Active TSS	HSMM	muscle
40	chr12:21809400-21811200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:21809400-21811200	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr12:21809400-21811200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:21809400-21811200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr12:21809400-21811200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:21809400-21811200	Active TSS	Aorta	Aorta
46	chr12:21809400-21811200	Active TSS	Brain Angular Gyrus	brain
47	chr12:21809400-21811200	Active TSS	Fetal Lung	lung
48	chr12:21809400-21811200	Active TSS	Fetal Muscle Trunk	muscle
49	chr12:21809400-21811200	Active TSS	Fetal Stomach	stomach
50	chr12:21809400-21811200	Active TSS	Sigmoid Colon	Sigmoid Colon

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