Variant report

Variant	rs35844634
Chromosome Location	chr12:104443953-104443954
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:122)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr12:104443384-104443957	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr12:104443612-104444109	ProgFib	skin:	n/a	n/a
3	POLR2A	chr12:104443025-104444175	SK-N-SH	brain:	n/a	n/a
4	TEAD4	chr12:104443271-104443988	ECC-1	luminal epithelium:	n/a	n/a
5	GTF2F1	chr12:104443434-104443968	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr12:104443717-104444052	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr12:104443557-104444087	H1-hESC	embryonic stem cell:	n/a	n/a
8	RCOR1	chr12:104443890-104444038	Hela-S3	cervix:	n/a	n/a
9	UBTF	chr12:104443822-104444069	K562	blood:	n/a	n/a
10	FOSL2	chr12:104443040-104444134	SK-N-SH	brain:	n/a	chr12:104444105-104444117
11	TEAD4	chr12:104443127-104444176	SK-N-SH	brain:	n/a	n/a
12	TCF7L2	chr12:104443522-104444018	Hela-S3	cervix:	n/a	n/a
13	TAF1	chr12:104443610-104444131	H1-hESC	embryonic stem cell:	n/a	n/a
14	YY1	chr12:104443357-104444120	H1-hESC	embryonic stem cell:	n/a	chr12:104443753-104443764
15	TBP	chr12:104443481-104444050	Hela-S3	cervix:	n/a	n/a
16	TAF1	chr12:104443405-104444192	H1-hESC	embryonic stem cell:	n/a	n/a
17	TCF12	chr12:104442977-104444428	SK-N-SH	brain:	n/a	n/a
18	MAZ	chr12:104443885-104443976	Hela-S3	cervix:	n/a	n/a
19	TCF12	chr12:104443003-104444354	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr12:104443577-104444082	ECC-1	luminal epithelium:	n/a	n/a
21	SIN3AK20	chr12:104443692-104444173	SK-N-SH	brain:	n/a	n/a
22	TAF1	chr12:104443361-104444122	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr12:104443486-104444198	H1-hESC	embryonic stem cell:	n/a	n/a
24	RAD21	chr12:104443770-104444172	SK-N-SH_RA	brain:	n/a	n/a
25	KAP1	chr12:104443637-104444391	HEK293	kidney:	n/a	n/a
26	POLR2A	chr12:104443634-104444084	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr12:104443331-104444316	H1-hESC	embryonic stem cell:	n/a	n/a
28	FOXP2	chr12:104443819-104444098	SK-N-MC	brain:	n/a	n/a
29	TEAD4	chr12:104443225-104444018	ECC-1	luminal epithelium:	n/a	n/a
30	YY1	chr12:104443056-104444013	SK-N-SH	brain:	n/a	chr12:104443753-104443764
31	TAF1	chr12:104443522-104444088	ECC-1	luminal epithelium:	n/a	n/a
32	NFIC	chr12:104443696-104444171	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr12:104443723-104444094	HCT-116	colon:	n/a	n/a
34	POLR2A	chr12:104443643-104444293	SK-N-MC	brain:	n/a	n/a
35	MAX	chr12:104443454-104444104	ECC-1	luminal epithelium:	n/a	n/a
36	TBP	chr12:104443546-104444126	H1-hESC	embryonic stem cell:	n/a	n/a
37	UBTF	chr12:104443924-104443974	K562	blood:	n/a	n/a
38	POLR2A	chr12:104443540-104443970	Hela-S3	cervix:	n/a	n/a
39	YY1	chr12:104443802-104444048	HCT-116	colon:	n/a	n/a
40	POLR2A	chr12:104443615-104444166	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:104443925-104443975	Hepatocyte	liver:	n/a
2	chr12:104443953-104444003	BJ	skin:	n/a
3	chr12:104443925-104443975	SK-N-SH	brain:	n/a
4	chr12:104443925-104443975	HCT-116	colon:	n/a
5	chr12:104443953-104444003	HL-60	blood:	n/a
6	chr12:104443925-104443975	Jurkat	blood:	n/a
7	chr12:104443925-104443975	AoSMC	blood vessel:	n/a
8	chr12:104443925-104443975	HMEC	breast:	n/a
9	chr12:104443925-104443975	GM12891	blood:	n/a
10	chr12:104443953-104444003	ECC-1	luminal epithelium:	n/a
11	chr12:104443953-104444003	AG04449	skin:	fetal
12	chr12:104443953-104444003	T-47D	breast:	n/a
13	chr12:104443925-104443975	SK-N-MC	brain:	n/a
14	chr12:104443953-104444003	Caco-2	colon:	n/a
15	chr12:104443925-104443975	HRE	kidney:	n/a
16	chr12:104443953-104444003	GM06990	blood:	n/a
17	chr12:104443953-104444003	NT2-D1	testis:	n/a
18	chr12:104443953-104444003	CMK	blood:	n/a
19	chr12:104443925-104443975	HepG2	liver:	n/a
20	chr12:104443953-104444003	AG09309	skin:	n/a
21	chr12:104443953-104444003	ProgFib	skin:	n/a
22	chr12:104443925-104443975	T-47D	breast:	n/a
23	chr12:104443925-104443975	HRCEpiC	kidney:	n/a
24	chr12:104443925-104443975	BJ	skin:	n/a
25	chr12:104443953-104444003	AG04450	lung:	fetal
26	chr12:104443953-104444003	HUVEC	blood vessel:	n/a
27	chr12:104443953-104444003	ovcar-3	ovarian:	n/a
28	chr12:104443925-104443975	AG04450	lung:	fetal
29	chr12:104443925-104443975	RPTEC	kidney:	n/a
30	chr12:104443953-104444003	U87	brain:	n/a
31	chr12:104443925-104443975	HRPEpiC	eye:	n/a
32	chr12:104443953-104444003	AG09319	gingival:	n/a
33	chr12:104443925-104443975	PFSK-1	brain:	n/a
34	chr12:104443953-104444003	GM19239	blood:	n/a
35	chr12:104443925-104443975	H1-hESC	embryonic stem cell:	embryo
36	chr12:104443953-104444003	GM12878	blood:	n/a
37	chr12:104443953-104444003	PFSK-1	brain:	n/a
38	chr12:104443953-104444003	MCF10A-Er-Src	breast:	n/a
39	chr12:104443953-104444003	HCM	heart:	n/a
40	chr12:104443925-104443975	AG09309	skin:	n/a
41	chr12:104443953-104444003	GM12891	blood:	n/a
42	chr12:104443925-104443975	GM06990	blood:	n/a
43	chr12:104443953-104444003	NHBE	bronchial:	n/a
44	chr12:104443925-104443975	HL-60	blood:	n/a
45	chr12:104443953-104444003	K562	blood:	n/a
46	chr12:104443925-104443975	IMR90	lung:	fetal
47	chr12:104443953-104444003	HCPEpiC	choroid plexus:	n/a
48	chr12:104443953-104444003	HNPCEpiC	eye:	n/a
49	chr12:104443953-104444003	MCF-7	breast:	n/a
50	chr12:104443953-104444003	IMR90	lung:	fetal

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104441752..104444274-chr12:104682358..104684016,2	K562	blood:
2	chr12:104359553..104362361-chr12:104443780..104446717,2	K562	blood:
3	chr12:104440302..104444353-chr12:104456677..104458918,3	K562	blood:
4	chr12:104441740..104444353-chr12:104456837..104458918,2	K562	blood:

No data

Variant related genes	Relation type
GLT8D2	TF binding region
GLT8D2	CpG island
ENSG00000139372	Chromatin interaction
ENSG00000120820	Chromatin interaction
ENSG00000111727	Chromatin interaction
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10745985	1.00[ASN][1000 genomes]
rs11111937	1.00[ASN][1000 genomes]
rs11111942	1.00[ASN][1000 genomes]
rs11111969	1.00[ASN][1000 genomes]
rs1165595	1.00[ASN][1000 genomes]
rs1165667	1.00[ASN][1000 genomes]
rs1165671	1.00[ASN][1000 genomes]
rs1165679	1.00[ASN][1000 genomes]
rs1165683	1.00[ASN][1000 genomes]
rs12809773	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12812451	1.00[ASN][1000 genomes]
rs12813601	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12819539	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12823195	1.00[ASN][1000 genomes]
rs12826196	1.00[ASN][1000 genomes]
rs12828655	1.00[ASN][1000 genomes]
rs17034955	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1866075	1.00[ASN][1000 genomes]
rs2576953	1.00[ASN][1000 genomes]
rs2576956	1.00[ASN][1000 genomes]
rs2576959	1.00[ASN][1000 genomes]
rs2576968	1.00[ASN][1000 genomes]
rs2576976	1.00[ASN][1000 genomes]
rs2919806	1.00[ASN][1000 genomes]
rs34309392	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34811234	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34863477	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35392305	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35453744	1.00[ASN][1000 genomes]
rs35473944	1.00[ASN][1000 genomes]
rs35642814	1.00[ASN][1000 genomes]
rs35653685	1.00[ASN][1000 genomes]
rs35822062	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35945288	1.00[ASN][1000 genomes]
rs4964441	0.83[AMR][1000 genomes]
rs4964733	1.00[ASN][1000 genomes]
rs6539127	1.00[ASN][1000 genomes]
rs66554757	1.00[ASN][1000 genomes]
rs71466284	1.00[ASN][1000 genomes]
rs71466286	1.00[ASN][1000 genomes]
rs71466293	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71466302	1.00[ASN][1000 genomes]
rs7294701	1.00[ASN][1000 genomes]
rs7305137	1.00[ASN][1000 genomes]
rs7311508	1.00[ASN][1000 genomes]
rs7313536	1.00[ASN][1000 genomes]
rs7979945	1.00[ASN][1000 genomes]
rs9669259	1.00[ASN][1000 genomes]
rs9669708	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104441800-104444600	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr12:104442000-104444400	Active TSS	Aorta	Aorta
3	chr12:104442400-104444400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
4	chr12:104442400-104444600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:104442600-104444600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr12:104442600-104444600	Active TSS	Right Atrium	heart
7	chr12:104442800-104444000	Active TSS	Fetal Stomach	stomach
8	chr12:104442800-104444000	Active TSS	Rectal Smooth Muscle	rectum
9	chr12:104442800-104444000	Active TSS	NHLF	lung
10	chr12:104442800-104444200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:104442800-104444200	Active TSS	Colon Smooth Muscle	Colon
12	chr12:104442800-104444200	Active TSS	Stomach Smooth Muscle	stomach
13	chr12:104442800-104444400	Active TSS	Ovary	ovary
14	chr12:104442800-104444600	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr12:104442800-104444600	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr12:104443000-104444000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:104443000-104444000	Active TSS	Hela-S3	cervix
18	chr12:104443000-104444200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr12:104443000-104444200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:104443000-104444200	Active TSS	Fetal Lung	lung
21	chr12:104443000-104444400	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr12:104443000-104444600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:104443000-104444600	Active TSS	NHDF-Ad	bronchial
24	chr12:104443200-104444000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr12:104443200-104444000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr12:104443200-104444000	Active TSS	HMEC	breast
27	chr12:104443200-104444000	Active TSS	NH-A	brain
28	chr12:104443200-104444200	Active TSS	H9 Cell Line	embryonic stem cell
29	chr12:104443200-104444200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr12:104443200-104444200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr12:104443200-104444200	Bivalent/Poised TSS	Fetal Brain Male	brain
32	chr12:104443200-104444200	Active TSS	Fetal Kidney	kidney
33	chr12:104443200-104444400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:104443200-104444400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
35	chr12:104443200-104444600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
36	chr12:104443400-104444000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:104443400-104444000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr12:104443400-104444000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:104443400-104444000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:104443400-104444000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:104443400-104444000	Active TSS	Placenta Amnion	Placenta Amnion
42	chr12:104443400-104444000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
43	chr12:104443400-104444000	Active TSS	Osteobl	bone
44	chr12:104443400-104444200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:104443400-104444200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:104443400-104444200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:104443400-104444200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:104443400-104444200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:104443400-104444200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:104443400-104444200	Active TSS	Left Ventricle	heart

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