Variant report

Variant	rs73225249
Chromosome Location	chr12:120972839-120972840
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:236)
CpG islands
(count:61)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:236 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr12:120971971-120972843	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:120972034-120972845	A549	lung:	n/a	n/a
3	POLR2A	chr12:120972687-120973340	MCF10A-Er-Src	breast:	n/a	n/a
4	YY1	chr12:120972818-120973143	SK-N-SH_RA	brain:	n/a	n/a
5	MAX	chr12:120971939-120973247	Hela-S3	cervix:	n/a	chr12:120972389-120972399 chr12:120972792-120972802
6	UBTF	chr12:120972082-120973289	K562	blood:	n/a	n/a
7	CTCF	chr12:120972760-120972910	HCPEpiC	choroid plexus:	n/a	chr12:120972808-120972821
8	POLR2A	chr12:120972759-120973194	U87	brain:	n/a	n/a
9	POLR2A	chr12:120972642-120973121	HepG2	liver:	n/a	n/a
10	MAX	chr12:120972010-120972952	A549	lung:	n/a	chr12:120972389-120972399 chr12:120972792-120972802
11	POLR2A	chr12:120972581-120973161	GM12891	blood:	n/a	n/a
12	REST	chr12:120971874-120973214	H1-neurons	neurons:	n/a	chr12:120972803-120972821 chr12:120972789-120972802 chr12:120972802-120972822
13	TAF7	chr12:120972515-120973031	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr12:120971857-120973059	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr12:120971879-120973377	GM12878	blood:	n/a	n/a
16	YY1	chr12:120971990-120973120	GM12891	blood:	n/a	chr12:120972412-120972423 chr12:120972795-120972804 chr12:120972789-120972803
17	POLR2A	chr12:120971999-120972901	K562	blood:	n/a	n/a
18	POLR2A	chr12:120971836-120973183	K562	blood:	n/a	n/a
19	ZC3H11A	chr12:120972783-120973252	K562	blood:	n/a	n/a
20	BHLHE40	chr12:120972831-120973244	K562	blood:	n/a	n/a
21	HDAC2	chr12:120972558-120973153	K562	blood:	n/a	n/a
22	CTCF	chr12:120972800-120972950	GM12867	blood:	n/a	chr12:120972808-120972821
23	MYC	chr12:120971962-120973214	NB4	blood:	n/a	chr12:120972389-120972399 chr12:120972792-120972802
24	POLR2A	chr12:120971996-120972946	GM15510	blood:	n/a	n/a
25	POLR2A	chr12:120971853-120973287	PBDE	blood:	n/a	n/a
26	TAF1	chr12:120972607-120972911	K562	blood:	n/a	n/a
27	POLR2A	chr12:120971936-120972856	GM12892	blood:	n/a	n/a
28	CTCF	chr12:120972700-120972850	AG04449	skin:	n/a	chr12:120972808-120972821
29	SIN3AK20	chr12:120972681-120973022	A549	lung:	n/a	n/a
30	MXI1	chr12:120971902-120973622	GM12878	blood:	n/a	n/a
31	JUND	chr12:120971722-120973611	SK-N-SH	brain:	n/a	chr12:120973085-120973096 chr12:120971935-120971949
32	RUNX3	chr12:120972575-120973264	GM12878	blood:	n/a	n/a
33	EP300	chr12:120972774-120973141	K562	blood:	n/a	chr12:120972783-120972799
34	CTCF	chr12:120972720-120972870	Caco-2	colon:	n/a	chr12:120972808-120972821
35	POLR2A	chr12:120971896-120973126	H1-neurons	neurons:	n/a	n/a
36	SMARCB1	chr12:120972064-120972951	Hela-S3	cervix:	n/a	chr12:120972092-120972101
37	TAL1	chr12:120972807-120973253	K562	blood:	n/a	n/a
38	EGR1	chr12:120972613-120972957	K562	blood:	n/a	chr12:120972796-120972806 chr12:120972793-120972806 chr12:120972788-120972802 chr12:120972796-120972805
39	ATF3	chr12:120972673-120973325	K562	blood:	n/a	n/a
40	POLR2A	chr12:120971897-120973226	K562	blood:	n/a	n/a
41	CTCF	chr12:120972720-120972870	A549	lung:	n/a	chr12:120972808-120972821
42	POLR2A	chr12:120971930-120973167	GM12891	blood:	n/a	n/a
43	STAT3	chr12:120972832-120973079	MCF10A-Er-Src	breast:	n/a	n/a
44	JUN	chr12:120972830-120973280	K562	blood:	n/a	n/a
45	YY1	chr12:120972036-120973129	K562	blood:	n/a	chr12:120972412-120972423 chr12:120972795-120972804 chr12:120972789-120972803
46	SMC3	chr12:120972655-120973175	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr12:120972720-120972870	SK-N-SH_RA	brain:	n/a	chr12:120972808-120972821
48	HMGN3	chr12:120972117-120972911	K562	blood:	n/a	n/a
49	CTCF	chr12:120972589-120972914	K562	blood:	n/a	chr12:120972808-120972821
50	STAT1	chr12:120972668-120973067	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120972797-120972847	NH-A	brain:	n/a
2	chr12:120972797-120972847	HCF	heart:	n/a
3	chr12:120972797-120972847	HRCEpiC	kidney:	n/a
4	chr12:120972797-120972847	MCF-7	breast:	n/a
5	chr12:120972797-120972847	AG04449	skin:	fetal
6	chr12:120972797-120972847	HCM	heart:	n/a
7	chr12:120972797-120972847	AoSMC	blood vessel:	n/a
8	chr12:120972797-120972847	IMR90	lung:	fetal
9	chr12:120972797-120972847	HEEpiC	esophagus:	n/a
10	chr12:120972797-120972847	LNCaP	prostate:	n/a
11	chr12:120972797-120972847	BE2_C	brain:	n/a
12	chr12:120972797-120972847	GM12892	blood:	n/a
13	chr12:120972797-120972847	BJ	skin:	n/a
14	chr12:120972797-120972847	Jurkat	blood:	n/a
15	chr12:120972797-120972847	GM12891	blood:	n/a
16	chr12:120972797-120972847	Hepatocyte	liver:	n/a
17	chr12:120972797-120972847	SK-N-SH	brain:	n/a
18	chr12:120972797-120972847	GM12878	blood:	n/a
19	chr12:120972797-120972847	GM06990	blood:	n/a
20	chr12:120972797-120972847	HRE	kidney:	n/a
21	chr12:120972797-120972847	CMK	blood:	n/a
22	chr12:120972797-120972847	HRPEpiC	eye:	n/a
23	chr12:120972797-120972847	ECC-1	luminal epithelium:	n/a
24	chr12:120972797-120972847	HCT-116	colon:	n/a
25	chr12:120972797-120972847	NB4	blood:	n/a
26	chr12:120972797-120972847	Caco-2	colon:	n/a
27	chr12:120972797-120972847	T-47D	breast:	n/a
28	chr12:120972797-120972847	PANC-1	pancreas:	n/a
29	chr12:120972797-120972847	HIPEpiC	eye:	n/a
30	chr12:120972797-120972847	ovcar-3	ovarian:	n/a
31	chr12:120972797-120972847	SK-N-MC	brain:	n/a
32	chr12:120972797-120972847	HAEpiC	amniotic membrane:	n/a
33	chr12:120972797-120972847	HPAEpiC	pulmonary alveolar:	n/a
34	chr12:120972797-120972847	NHBE	bronchial:	n/a
35	chr12:120972797-120972847	HEK293	kidney:	embryo
36	chr12:120972797-120972847	NHDF-neo	bronchial:	n/a
37	chr12:120972797-120972847	H1-hESC	embryonic stem cell:	embryo
38	chr12:120972797-120972847	U87	brain:	n/a
39	chr12:120972797-120972847	PFSK-1	brain:	n/a
40	chr12:120972797-120972847	HL-60	blood:	n/a
41	chr12:120972797-120972847	Hela-S3	cervix:	n/a
42	chr12:120972797-120972847	AG10803	skin:	n/a
43	chr12:120972797-120972847	HCPEpiC	choroid plexus:	n/a
44	chr12:120972797-120972847	MCF10A-Er-Src	breast:	n/a
45	chr12:120972797-120972847	RPTEC	kidney:	n/a
46	chr12:120972797-120972847	HUVEC	blood vessel:	n/a
47	chr12:120972797-120972847	K562	blood:	n/a
48	chr12:120972797-120972847	SK-N-SH_RA	brain:	n/a
49	chr12:120972797-120972847	AG04450	lung:	fetal
50	chr12:120972797-120972847	SAEC	small airway:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120883164..120885526-chr12:120971268..120972852,2	K562	blood:
2	chr12:120970635..120973356-chr12:121018386..121020894,3	K562	blood:
3	chr12:120727107..120731318-chr12:120971335..120975286,11	K562	blood:
4	chr12:120728453..120733011-chr12:120965347..120973411,16	MCF-7	breast:
5	chr12:120931985..120935585-chr12:120970035..120974742,8	MCF-7	breast:
6	chr12:120905043..120908623-chr12:120970585..120973644,4	K562	blood:
7	chr12:120882042..120885526-chr12:120971268..120975128,6	K562	blood:
8	chr12:120932493..120935871-chr12:120970423..120972998,4	K562	blood:
9	chr12:120906583..120908236-chr12:120972144..120973710,2	K562	blood:
10	chr12:120932857..120935871-chr12:120969535..120974885,9	K562	blood:
11	chr12:120874999..120877444-chr12:120972685..120975166,2	K562	blood:
12	chr12:120906126..120908752-chr12:120971938..120973464,2	MCF-7	breast:
13	chr12:120933021..120935221-chr12:120970996..120973452,2	MCF-7	breast:
14	chr12:120964646..120969249-chr12:120969286..120973951,11	MCF-7	breast:
15	chr12:120971743..120974059-chr12:121017467..121020168,3	MCF-7	breast:
16	chr12:120972451..120974167-chr19:10764022..10766297,2	K562	blood:
17	chr12:120729269..120732334-chr12:120971435..120974602,3	K562	blood:
18	chr12:120728052..120732322-chr12:120971723..120974902,6	MCF-7	breast:
19	chr12:120905762..120908724-chr12:120970875..120974820,5	MCF-7	breast:

No data

Variant related genes	Relation type
COQ5	TF binding region
RNF10	TF binding region
COQ5	CpG island
RNF10	CpG island
ENSG00000111775	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000167272	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000111780	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000129351	Chromatin interaction
ENSG00000267100	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11548264	1.00[AFR][1000 genomes]
rs14017	1.00[AFR][1000 genomes]
rs16950287	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17431357	1.00[AFR][1000 genomes]
rs17431446	1.00[AFR][1000 genomes]
rs17487343	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17487385	1.00[AFR][1000 genomes]
rs17584461	1.00[AFR][1000 genomes]
rs17584503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73221346	1.00[AFR][1000 genomes]
rs73221358	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs73221362	1.00[AFR][1000 genomes]
rs73221363	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73221368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73221372	1.00[AFR][1000 genomes]
rs73221373	1.00[AFR][1000 genomes]
rs73221378	1.00[AFR][1000 genomes]
rs73221380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73221381	1.00[AFR][1000 genomes]
rs73221382	1.00[AFR][1000 genomes]
rs73223295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73223296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73225205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73225208	1.00[AFR][1000 genomes]
rs73225213	1.00[AFR][1000 genomes]
rs73225218	1.00[AFR][1000 genomes]
rs73225225	1.00[AFR][1000 genomes]
rs73225229	1.00[AFR][1000 genomes]
rs73225238	1.00[AFR][1000 genomes]
rs73225245	1.00[AFR][1000 genomes]
rs73225248	1.00[AFR][1000 genomes]
rs73230303	1.00[AFR][1000 genomes]
rs73230305	1.00[AFR][1000 genomes]
rs73230306	1.00[AFR][1000 genomes]
rs73230308	1.00[AFR][1000 genomes]
rs73230313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230314	1.00[AFR][1000 genomes]
rs73230318	1.00[AFR][1000 genomes]
rs73230322	1.00[AFR][1000 genomes]
rs73230336	0.87[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3324282	chr12:120971394-120973942	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120971200-120973800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:120971400-120973400	Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr12:120971400-120974000	Active TSS	Duodenum Mucosa	Duodenum
4	chr12:120971600-120973000	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr12:120971600-120973400	Active TSS	Brain Cingulate Gyrus	brain
6	chr12:120971600-120973600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:120971800-120973000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:120971800-120973000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:120971800-120973000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:120971800-120973000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:120971800-120973000	Active TSS	Adipose Nuclei	Adipose
12	chr12:120971800-120973000	Active TSS	Liver	Liver
13	chr12:120971800-120973000	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr12:120971800-120973000	Active TSS	Fetal Brain Female	brain
15	chr12:120971800-120973000	Active TSS	Fetal Muscle Leg	muscle
16	chr12:120971800-120973000	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr12:120971800-120973000	Active TSS	NHEK	skin
18	chr12:120971800-120973200	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr12:120971800-120973200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:120971800-120973200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:120971800-120973200	Active TSS	Brain Angular Gyrus	brain
22	chr12:120971800-120973200	Active TSS	Fetal Lung	lung
23	chr12:120971800-120973200	Active TSS	Fetal Stomach	stomach
24	chr12:120971800-120973200	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr12:120971800-120973200	Active TSS	Stomach Smooth Muscle	stomach
26	chr12:120971800-120973200	Active TSS	Thymus	Thymus
27	chr12:120971800-120973200	Active TSS	HUVEC	blood vessel
28	chr12:120971800-120973200	Active TSS	K562	blood
29	chr12:120971800-120973400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr12:120971800-120973400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:120971800-120973400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:120971800-120973400	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr12:120971800-120973400	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr12:120971800-120973400	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr12:120971800-120973400	Active TSS	Muscle Satellite Cultured Cells	--
36	chr12:120971800-120973400	Active TSS	Brain Anterior Caudate	brain
37	chr12:120971800-120973400	Active TSS	Brain Substantia Nigra	brain
38	chr12:120971800-120973400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr12:120971800-120973400	Active TSS	NHDF-Ad	bronchial
40	chr12:120971800-120973600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:120971800-120973600	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr12:120971800-120973600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:120971800-120973600	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr12:120971800-120973600	Active TSS	Brain Hippocampus Middle	brain
45	chr12:120971800-120973600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:120971800-120973600	Active TSS	Colon Smooth Muscle	Colon
47	chr12:120971800-120973600	Active TSS	Placenta	Placenta
48	chr12:120971800-120973600	Active TSS	HSMM	muscle
49	chr12:120971800-120973600	Active TSS	Osteobl	bone
50	chr12:120971800-120973800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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