Variant report

Variant	rs35267083
Chromosome Location	chr12:120942652-120942653
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POU5F1	chr12:120942428-120942671	H1-hESC	embryonic stem cell:	n/a	chr12:120942557-120942571 chr12:120942557-120942571 chr12:120942558-120942572 chr12:120942507-120942518 chr12:120942557-120942571

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120942642-120942692	BJ	skin:	n/a
2	chr12:120942642-120942692	NHDF-neo	bronchial:	n/a
3	chr12:120942642-120942692	HAEpiC	amniotic membrane:	n/a
4	chr12:120942642-120942692	ProgFib	skin:	n/a
5	chr12:120942642-120942692	SK-N-SH_RA	brain:	n/a
6	chr12:120942642-120942692	HCF	heart:	n/a
7	chr12:120942642-120942692	HUVEC	blood vessel:	n/a
8	chr12:120942642-120942692	HCM	heart:	n/a
9	chr12:120942642-120942692	HNPCEpiC	eye:	n/a
10	chr12:120942642-120942692	AG10803	skin:	n/a
11	chr12:120942642-120942692	NT2-D1	testis:	n/a
12	chr12:120942642-120942692	RPTEC	kidney:	n/a
13	chr12:120942642-120942692	HRPEpiC	eye:	n/a
14	chr12:120942642-120942692	H1-hESC	embryonic stem cell:	embryo
15	chr12:120942642-120942692	ECC-1	luminal epithelium:	n/a
16	chr12:120942642-120942692	BE2_C	brain:	n/a
17	chr12:120942642-120942692	AG04449	skin:	fetal
18	chr12:120942642-120942692	MCF-7	breast:	n/a
19	chr12:120942642-120942692	GM19239	blood:	n/a
20	chr12:120942642-120942692	HL-60	blood:	n/a
21	chr12:120942642-120942692	SAEC	small airway:	n/a
22	chr12:120942642-120942692	GM12891	blood:	n/a
23	chr12:120942642-120942692	A549	lung:	n/a
24	chr12:120942642-120942692	PFSK-1	brain:	n/a
25	chr12:120942642-120942692	AG09309	skin:	n/a
26	chr12:120942642-120942692	MCF10A-Er-Src	breast:	n/a
27	chr12:120942642-120942692	K562	blood:	n/a
28	chr12:120942642-120942692	HepG2	liver:	n/a
29	chr12:120942642-120942692	HEEpiC	esophagus:	n/a
30	chr12:120942642-120942692	Jurkat	blood:	n/a
31	chr12:120942642-120942692	NH-A	brain:	n/a
32	chr12:120942642-120942692	GM12878	blood:	n/a
33	chr12:120942642-120942692	AG04450	lung:	fetal
34	chr12:120942642-120942692	U87	brain:	n/a
35	chr12:120942642-120942692	SK-N-MC	brain:	n/a
36	chr12:120942642-120942692	HIPEpiC	eye:	n/a
37	chr12:120942642-120942692	Caco-2	colon:	n/a
38	chr12:120942642-120942692	HRCEpiC	kidney:	n/a
39	chr12:120942642-120942692	HPAEpiC	pulmonary alveolar:	n/a
40	chr12:120942642-120942692	AG09319	gingival:	n/a
41	chr12:120942642-120942692	NHBE	bronchial:	n/a
42	chr12:120942642-120942692	T-47D	breast:	n/a
43	chr12:120942642-120942692	HEK293	kidney:	embryo
44	chr12:120942642-120942692	AoSMC	blood vessel:	n/a
45	chr12:120942642-120942692	SKMC	muscle:	n/a
46	chr12:120942642-120942692	PrEC	prostate:	n/a
47	chr12:120942642-120942692	ovcar-3	ovarian:	n/a
48	chr12:120942642-120942692	HCPEpiC	choroid plexus:	n/a
49	chr12:120942642-120942692	IMR90	lung:	fetal
50	chr12:120942642-120942692	LNCaP	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:120903724..120908002-chr12:120939821..120944385,4	MCF-7	breast:
2	chr12:120936907..120938548-chr12:120942568..120944463,2	MCF-7	breast:
3	chr12:120933177..120935963-chr12:120940341..120945552,6	K562	blood:
4	chr12:120941530..120943140-chr12:120965565..120967204,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000222601	TF binding region
ENSG00000222601	CpG island
ENSG00000248008	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000110871	Chromatin interaction

rs_ID	r²[population]
rs12821493	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2138250	1.00[ASN][1000 genomes]
rs2233673	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34815312	1.00[ASN][1000 genomes]
rs35151295	1.00[ASN][1000 genomes]
rs3889470	1.00[ASN][1000 genomes]
rs55647329	1.00[ASN][1000 genomes]
rs55874815	1.00[ASN][1000 genomes]
rs55980956	1.00[ASN][1000 genomes]
rs56084677	1.00[ASN][1000 genomes]
rs56183824	1.00[ASN][1000 genomes]
rs56366632	1.00[ASN][1000 genomes]
rs73213106	1.00[ASN][1000 genomes]
rs73222778	1.00[ASN][1000 genomes]
rs73222780	1.00[ASN][1000 genomes]
rs73222784	1.00[ASN][1000 genomes]
rs73222786	1.00[ASN][1000 genomes]
rs73222794	1.00[ASN][1000 genomes]
rs73222795	1.00[ASN][1000 genomes]
rs73225003	1.00[ASN][1000 genomes]
rs73225012	1.00[ASN][1000 genomes]
rs73225023	1.00[ASN][1000 genomes]
rs73225093	1.00[ASN][1000 genomes]
rs73225101	1.00[ASN][1000 genomes]
rs73230347	1.00[ASN][1000 genomes]
rs73230349	1.00[ASN][1000 genomes]
rs73230352	1.00[ASN][1000 genomes]

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120935200-120951400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:120935200-120966200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:120935400-120945800	Weak transcription	Pancreas	Pancrea
4	chr12:120935600-120966200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:120935800-120947000	Weak transcription	Aorta	Aorta
6	chr12:120935800-120951800	Weak transcription	Esophagus	oesophagus
7	chr12:120935800-120953400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:120936000-120943200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr12:120936000-120943400	Strong transcription	Placenta	Placenta
10	chr12:120936000-120944200	Strong transcription	Left Ventricle	heart
11	chr12:120936000-120944800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:120936000-120947000	Weak transcription	Colonic Mucosa	Colon
13	chr12:120936000-120947200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:120936000-120955200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:120936000-120964200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr12:120936400-120963800	Weak transcription	Hela-S3	cervix
17	chr12:120936400-120966000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:120936400-120966200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr12:120936600-120949600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:120936600-120954800	Strong transcription	Adipose Nuclei	Adipose
21	chr12:120936800-120944600	Strong transcription	Fetal Muscle Leg	muscle
22	chr12:120936800-120956600	Weak transcription	Stomach Mucosa	stomach
23	chr12:120937000-120944400	Strong transcription	Fetal Stomach	stomach
24	chr12:120937000-120951800	Weak transcription	NH-A	brain
25	chr12:120937200-120943000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:120937200-120945800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:120937200-120966000	Weak transcription	Psoas Muscle	Psoas
28	chr12:120937600-120943000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:120937600-120963600	Strong transcription	Fetal Intestine Small	intestine
30	chr12:120938000-120944800	Strong transcription	Liver	Liver
31	chr12:120938000-120953200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:120938200-120943600	Strong transcription	Fetal Intestine Large	intestine
33	chr12:120938400-120944800	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr12:120938800-120943000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:120938800-120944000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:120938800-120944000	Strong transcription	Lung	lung
37	chr12:120938800-120944800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:120939000-120943000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:120939000-120943000	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:120939000-120946800	Weak transcription	NHDF-Ad	bronchial
41	chr12:120939200-120943800	Strong transcription	Fetal Thymus	thymus
42	chr12:120939200-120944000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:120939200-120944600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:120939400-120946000	Weak transcription	Small Intestine	intestine
45	chr12:120939800-120951800	Weak transcription	Fetal Brain Male	brain
46	chr12:120940400-120943600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr12:120940400-120944200	Strong transcription	Primary B cells from peripheral blood	blood
48	chr12:120940400-120948800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:120940600-120942800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:120940600-120942800	Strong transcription	A549	lung

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