Variant report

Variant	rs555693744
Chromosome Location	chr12:57824911-57824912
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:433)
CpG islands
(count:61)
Chromatin interactive
region (count:22)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:433 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr12:57824700-57825091	K562	blood:	n/a	chr12:57824943-57824952
2	CEBPB	chr12:57824751-57825003	K562	blood:	n/a	n/a
3	ZNF143	chr12:57824559-57825069	GM12878	blood:	n/a	n/a
4	RUNX3	chr12:57823918-57825303	GM12878	blood:	n/a	chr12:57824238-57824255
5	POLR2A	chr12:57823603-57825744	MCF10A-Er-Src	breast:	n/a	n/a
6	TEAD4	chr12:57824717-57825271	K562	blood:	n/a	n/a
7	MAX	chr12:57824582-57825166	SK-N-SH	brain:	n/a	n/a
8	FOXP2	chr12:57824648-57825023	SK-N-MC	brain:	n/a	n/a
9	JUND	chr12:57824689-57824996	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr12:57823421-57825630	A549	lung:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
11	USF1	chr12:57824671-57825142	A549	lung:	n/a	chr12:57824797-57824813
12	SIN3AK20	chr12:57824483-57825341	MCF-7	breast:	n/a	n/a
13	ETS1	chr12:57824675-57825173	GM12878	blood:	n/a	chr12:57824796-57824807
14	POLR2A	chr12:57824237-57825548	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr12:57824751-57825372	K562	blood:	n/a	n/a
16	TAF1	chr12:57824568-57825130	H1-neurons	neurons:	n/a	n/a
17	TCF7L2	chr12:57824882-57825013	PANC-1	pancreas:	n/a	n/a
18	TBP	chr12:57824632-57825388	Hela-S3	cervix:	n/a	n/a
19	EP300	chr12:57824701-57825167	K562	blood:	n/a	chr12:57824795-57824811 chr12:57824928-57824941 chr12:57824798-57824814
20	WRNIP1	chr12:57824764-57825322	GM12878	blood:	n/a	n/a
21	MYC	chr12:57824752-57825025	GM12878	blood:	n/a	n/a
22	POLR2A	chr12:57824553-57825533	SK-N-SH	brain:	n/a	n/a
23	TAF1	chr12:57824562-57825235	MCF-7	breast:	n/a	n/a
24	MAX	chr12:57824705-57825085	HUVEC	blood vessel:	n/a	n/a
25	MYC	chr12:57824851-57824915	Hela-S3	cervix:	n/a	n/a
26	SRF	chr12:57824543-57825305	MCF-7	breast:	n/a	n/a
27	TAF1	chr12:57823958-57825148	K562	blood:	n/a	n/a
28	POLR2A	chr12:57823736-57825230	K562	blood:	n/a	n/a
29	POLR2A	chr12:57823615-57825307	K562	blood:	n/a	n/a
30	RFX5	chr12:57824721-57825073	HepG2	liver:	n/a	n/a
31	POLR2A	chr12:57824651-57825230	SK-N-MC	brain:	n/a	n/a
32	EGR1	chr12:57824187-57824945	GM12878	blood:	n/a	chr12:57824269-57824282 chr12:57824269-57824282
33	POLR2A	chr12:57824211-57825201	Gliobla	brain:	n/a	n/a
34	NRF1	chr12:57824709-57825119	K562	blood:	n/a	chr12:57824942-57824956 chr12:57824803-57824817 chr12:57824942-57824953
35	POLR2A	chr12:57823478-57825510	HL-60	blood:	n/a	n/a
36	POLR2A	chr12:57824206-57825138	GM10847	blood:	n/a	n/a
37	TAF1	chr12:57824715-57825131	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr12:57824719-57825413	GM12892	blood:	n/a	n/a
39	TAF1	chr12:57824696-57825093	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr12:57824677-57825381	GM12878	blood:	n/a	n/a
41	SPI1	chr12:57824773-57824980	GM12878	blood:	n/a	n/a
42	POLR2A	chr12:57824523-57825458	U87	brain:	n/a	n/a
43	EGR1	chr12:57824730-57825055	GM12878	blood:	n/a	chr12:57824943-57824952
44	TCF12	chr12:57824717-57824995	H1-hESC	embryonic stem cell:	n/a	n/a
45	SIN3AK20	chr12:57824270-57825045	PANC-1	pancreas:	n/a	n/a
46	MAX	chr12:57824563-57825252	MCF-7	breast:	n/a	n/a
47	CEBPB	chr12:57824788-57824928	H1-hESC	embryonic stem cell:	n/a	n/a
48	MYC	chr12:57823495-57825210	K562	blood:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
49	SIN3AK20	chr12:57824777-57825020	HepG2	liver:	n/a	n/a
50	POLR2A	chr12:57824686-57825466	U87	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:57824889-57824939	AoSMC	blood vessel:	n/a
2	chr12:57824889-57824939	HMEC	breast:	n/a
3	chr12:57824889-57824939	HepG2	liver:	n/a
4	chr12:57824889-57824939	AG04450	lung:	fetal
5	chr12:57824889-57824939	HRE	kidney:	n/a
6	chr12:57824889-57824939	K562	blood:	n/a
7	chr12:57824889-57824939	HCF	heart:	n/a
8	chr12:57824889-57824939	AG09309	skin:	n/a
9	chr12:57824889-57824939	HCPEpiC	choroid plexus:	n/a
10	chr12:57824889-57824939	HEEpiC	esophagus:	n/a
11	chr12:57824889-57824939	NH-A	brain:	n/a
12	chr12:57824889-57824939	GM19239	blood:	n/a
13	chr12:57824889-57824939	BE2_C	brain:	n/a
14	chr12:57824889-57824939	HAEpiC	amniotic membrane:	n/a
15	chr12:57824889-57824939	AG04449	skin:	fetal
16	chr12:57824889-57824939	MCF10A-Er-Src	breast:	n/a
17	chr12:57824889-57824939	IMR90	lung:	fetal
18	chr12:57824889-57824939	BJ	skin:	n/a
19	chr12:57824889-57824939	SAEC	small airway:	n/a
20	chr12:57824889-57824939	HCT-116	colon:	n/a
21	chr12:57824889-57824939	HL-60	blood:	n/a
22	chr12:57824889-57824939	LNCaP	prostate:	n/a
23	chr12:57824889-57824939	GM06990	blood:	n/a
24	chr12:57824889-57824939	SK-N-MC	brain:	n/a
25	chr12:57824889-57824939	GM12878	blood:	n/a
26	chr12:57824889-57824939	AG09319	gingival:	n/a
27	chr12:57824889-57824939	PrEC	prostate:	n/a
28	chr12:57824889-57824939	NT2-D1	testis:	n/a
29	chr12:57824889-57824939	Hela-S3	cervix:	n/a
30	chr12:57824889-57824939	PFSK-1	brain:	n/a
31	chr12:57824889-57824939	Jurkat	blood:	n/a
32	chr12:57824889-57824939	HUVEC	blood vessel:	n/a
33	chr12:57824889-57824939	SK-N-SH	brain:	n/a
34	chr12:57824889-57824939	HNPCEpiC	eye:	n/a
35	chr12:57824889-57824939	GM12892	blood:	n/a
36	chr12:57824889-57824939	HRCEpiC	kidney:	n/a
37	chr12:57824889-57824939	NHDF-neo	bronchial:	n/a
38	chr12:57824889-57824939	AG10803	skin:	n/a
39	chr12:57824889-57824939	ECC-1	luminal epithelium:	n/a
40	chr12:57824889-57824939	SKMC	muscle:	n/a
41	chr12:57824889-57824939	Hepatocyte	liver:	n/a
42	chr12:57824889-57824939	T-47D	breast:	n/a
43	chr12:57824889-57824939	HIPEpiC	eye:	n/a
44	chr12:57824889-57824939	ProgFib	skin:	n/a
45	chr12:57824889-57824939	CMK	blood:	n/a
46	chr12:57824889-57824939	HPAEpiC	pulmonary alveolar:	n/a
47	chr12:57824889-57824939	HEK293	kidney:	embryo
48	chr12:57824889-57824939	H1-hESC	embryonic stem cell:	embryo
49	chr12:57824889-57824939	MCF-7	breast:	n/a
50	chr12:57824889-57824939	A549	lung:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57820715..57827591-chr12:57847165..57857509,18	K562	blood:
2	chr12:57824494..57826362-chr12:57997412..57999477,2	K562	blood:
3	chr12:57808026..57810781-chr12:57822669..57824932,3	MCF-7	breast:
4	chr12:57824486..57825356-chr9:99417149..99417911,2	Hela-S3	cervix:
5	chr12:57675498..57678307-chr12:57822743..57825602,2	MCF-7	breast:
6	chr12:57824670..57825470-chr3:186524136..186524729,2	Hela-S3	cervix:
7	chr12:57823258..57825830-chr12:58164419..58166506,2	MCF-7	breast:
8	chr12:57822828..57827240-chr12:57828141..57836129,12	MCF-7	breast:
9	chr12:57672368..57674775-chr12:57822497..57825097,2	K562	blood:
10	chr12:57821945..57826454-chr12:57843844..57847049,4	K562	blood:
11	chr12:57822673..57825673-chr12:57914537..57916745,4	K562	blood:
12	chr12:57822102..57825804-chr12:57846903..57851131,6	MCF-7	breast:
13	chr12:57822750..57826133-chr12:57852904..57855936,4	K562	blood:
14	chr12:57824473..57826346-chr12:57880233..57882392,2	MCF-7	breast:
15	chr12:57824368..57825015-chr5:43484040..43484558,2	Hela-S3	cervix:
16	chr12:57522726..57524274-chr12:57824100..57825642,2	MCF-7	breast:
17	chr12:57821945..57831494-chr12:57839441..57852842,32	K562	blood:
18	chr12:57824538..57825303-chr12:120933529..120934294,2	HCT-116	colon:
19	chr12:57824492..57825084-chr16:2033914..2034785,2	Hela-S3	cervix:
20	chr12:57734197..57736239-chr12:57824447..57826782,2	K562	blood:
21	chr12:57824237..57824971-chrX:11129225..11130112,2	Hela-S3	cervix:
22	chr12:57673763..57676749-chr12:57823251..57825200,4	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-INHBC-1	chr12:57824899-57825213	ENSG00000258001

No data

Variant related genes	Relation type
INHBC	TF binding region
R3HDM2	TF binding region
INHBC	CpG island
R3HDM2	CpG island
ENSG00000234129	Chromatin interaction
ENSG00000178498	Chromatin interaction
ENSG00000111087	Chromatin interaction
ENSG00000123427	Chromatin interaction
ENSG00000268367	Chromatin interaction
ENSG00000166888	Chromatin interaction
ENSG00000175189	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000166986	Chromatin interaction
ENSG00000004961	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000139269	Chromatin interaction
ENSG00000201198	Chromatin interaction
ENSG00000163918	Chromatin interaction
ENSG00000037897	Chromatin interaction
ENSG00000158122	Chromatin interaction
ENSG00000127554	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000179912	Chromatin interaction
ENSG00000196408	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv1046013	chr12:57714676-57895167	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv541502	chr12:57714676-57895167	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv899117	chr12:57811414-57926472	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
5	esv3446927	chr12:57823485-57825733	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57823000-57825200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:57823200-57825000	Active TSS	HSMMtube	muscle
3	chr12:57823200-57825600	Active TSS	HMEC	breast
4	chr12:57823400-57825000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:57823400-57825000	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr12:57823400-57825000	Active TSS	A549	lung
7	chr12:57823400-57825200	Active TSS	H1 Cell Line	embryonic stem cell
8	chr12:57823400-57825200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:57823400-57825200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:57823400-57825200	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr12:57823400-57825200	Active TSS	Stomach Smooth Muscle	stomach
12	chr12:57823400-57825200	Active TSS	GM12878-XiMat	blood
13	chr12:57823400-57825200	Active TSS	HSMM	muscle
14	chr12:57823400-57825400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr12:57823400-57825400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:57823400-57825400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:57823400-57825400	Active TSS	NHLF	lung
18	chr12:57823400-57825600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:57823400-57825600	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr12:57823400-57825600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr12:57823600-57825000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:57823600-57825000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:57823600-57825000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:57823600-57825000	Active TSS	NHEK	skin
25	chr12:57823600-57825200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:57823600-57825200	Active TSS	Brain Hippocampus Middle	brain
27	chr12:57823600-57825200	Active TSS	Pancreas	Pancrea
28	chr12:57823600-57825200	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr12:57823600-57825400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:57823600-57825400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:57823600-57825400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:57823600-57825400	Active TSS	Aorta	Aorta
33	chr12:57823600-57825400	Active TSS	Brain Germinal Matrix	brain
34	chr12:57823600-57825400	Active TSS	Colonic Mucosa	Colon
35	chr12:57823600-57825400	Active TSS	Fetal Muscle Trunk	muscle
36	chr12:57823600-57825400	Active TSS	Left Ventricle	heart
37	chr12:57823600-57825400	Active TSS	Ovary	ovary
38	chr12:57823600-57825400	Active TSS	Placenta Amnion	Placenta Amnion
39	chr12:57823600-57825400	Active TSS	Psoas Muscle	Psoas
40	chr12:57823600-57825400	Active TSS	Right Ventricle	heart
41	chr12:57823600-57825400	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr12:57823800-57825000	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr12:57823800-57825000	Active TSS	Fetal Intestine Small	intestine
44	chr12:57823800-57825000	Active TSS	Hela-S3	cervix
45	chr12:57823800-57825000	Active TSS	HUVEC	blood vessel
46	chr12:57823800-57825200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:57823800-57825200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:57823800-57825200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:57823800-57825200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:57823800-57825200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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