Variant report

Variant	rs547964044
Chromosome Location	chr12:120973061-120973062
allele	A/C
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	POLR2A	chr12:120972687-120973340	MCF10A-Er-Src	breast:	n/a	n/a
2	FOSL2	chr12:120972906-120973264	A549	lung:	n/a	n/a
3	YY1	chr12:120972818-120973143	SK-N-SH_RA	brain:	n/a	n/a
4	MAX	chr12:120971939-120973247	Hela-S3	cervix:	n/a	chr12:120972389-120972399 chr12:120972792-120972802
5	UBTF	chr12:120972082-120973289	K562	blood:	n/a	n/a
6	POLR2A	chr12:120972759-120973194	U87	brain:	n/a	n/a
7	MYC	chr12:120972910-120973252	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr12:120972642-120973121	HepG2	liver:	n/a	n/a
9	POLR2A	chr12:120972581-120973161	GM12891	blood:	n/a	n/a
10	REST	chr12:120971874-120973214	H1-neurons	neurons:	n/a	chr12:120972803-120972821 chr12:120972789-120972802 chr12:120972802-120972822
11	FOS	chr12:120972868-120973308	MCF10A-Er-Src	breast:	n/a	chr12:120973085-120973096
12	POLR2A	chr12:120971879-120973377	GM12878	blood:	n/a	n/a
13	SPI1	chr12:120972900-120973529	HL-60	blood:	n/a	chr12:120973252-120973261 chr12:120973253-120973260 chr12:120973250-120973263
14	YY1	chr12:120971990-120973120	GM12891	blood:	n/a	chr12:120972412-120972423 chr12:120972795-120972804 chr12:120972789-120972803
15	POLR2A	chr12:120971836-120973183	K562	blood:	n/a	n/a
16	ZC3H11A	chr12:120972783-120973252	K562	blood:	n/a	n/a
17	BHLHE40	chr12:120972831-120973244	K562	blood:	n/a	n/a
18	STAT3	chr12:120972870-120973188	MCF10A-Er-Src	breast:	n/a	n/a
19	HDAC2	chr12:120972558-120973153	K562	blood:	n/a	n/a
20	JUND	chr12:120972915-120973268	HepG2	liver:	n/a	chr12:120973085-120973096
21	MYC	chr12:120971962-120973214	NB4	blood:	n/a	chr12:120972389-120972399 chr12:120972792-120972802
22	POLR2A	chr12:120971853-120973287	PBDE	blood:	n/a	n/a
23	FOSL1	chr12:120972887-120973275	K562	blood:	n/a	chr12:120973085-120973096
24	MXI1	chr12:120971902-120973622	GM12878	blood:	n/a	n/a
25	JUND	chr12:120971722-120973611	SK-N-SH	brain:	n/a	chr12:120973085-120973096 chr12:120971935-120971949
26	RUNX3	chr12:120972575-120973264	GM12878	blood:	n/a	n/a
27	MAX	chr12:120972937-120973171	K562	blood:	n/a	n/a
28	EP300	chr12:120972774-120973141	K562	blood:	n/a	chr12:120972783-120972799
29	POLR2A	chr12:120971896-120973126	H1-neurons	neurons:	n/a	n/a
30	TAL1	chr12:120972807-120973253	K562	blood:	n/a	n/a
31	ATF3	chr12:120972673-120973325	K562	blood:	n/a	n/a
32	MYC	chr12:120972983-120973154	K562	blood:	n/a	n/a
33	POLR2A	chr12:120971897-120973226	K562	blood:	n/a	n/a
34	POLR2A	chr12:120971930-120973167	GM12891	blood:	n/a	n/a
35	POLR2A	chr12:120972965-120973077	ProgFib	skin:	n/a	n/a
36	STAT3	chr12:120972832-120973079	MCF10A-Er-Src	breast:	n/a	n/a
37	JUN	chr12:120972830-120973280	K562	blood:	n/a	n/a
38	YY1	chr12:120972036-120973129	K562	blood:	n/a	chr12:120972412-120972423 chr12:120972795-120972804 chr12:120972789-120972803
39	SMC3	chr12:120972655-120973175	Hela-S3	cervix:	n/a	n/a
40	JUN	chr12:120972907-120973271	HUVEC	blood vessel:	n/a	n/a
41	STAT1	chr12:120972668-120973067	GM12878	blood:	n/a	n/a
42	MXI1	chr12:120971997-120973216	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr12:120972575-120973217	GM12891	blood:	n/a	n/a
44	POLR2A	chr12:120972003-120973149	Hela-S3	cervix:	n/a	n/a
45	PML	chr12:120972568-120973350	K562	blood:	n/a	n/a
46	JUN	chr12:120972920-120973234	K562	blood:	n/a	n/a
47	TRIM28	chr12:120972592-120973274	K562	blood:	n/a	n/a
48	MAX	chr12:120972676-120973273	ECC-1	luminal epithelium:	n/a	chr12:120972792-120972802
49	MAX	chr12:120971979-120973250	K562	blood:	n/a	chr12:120972389-120972399 chr12:120972792-120972802
50	FOS	chr12:120972852-120973272	MCF10A-Er-Src	breast:	n/a	chr12:120973085-120973096

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

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

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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	chr12:120971600-120973400	Active TSS	Brain Cingulate Gyrus	brain
5	chr12:120971600-120973600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:120971800-120973200	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr12:120971800-120973200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:120971800-120973200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:120971800-120973200	Active TSS	Brain Angular Gyrus	brain
10	chr12:120971800-120973200	Active TSS	Fetal Lung	lung
11	chr12:120971800-120973200	Active TSS	Fetal Stomach	stomach
12	chr12:120971800-120973200	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr12:120971800-120973200	Active TSS	Stomach Smooth Muscle	stomach
14	chr12:120971800-120973200	Active TSS	Thymus	Thymus
15	chr12:120971800-120973200	Active TSS	HUVEC	blood vessel
16	chr12:120971800-120973200	Active TSS	K562	blood
17	chr12:120971800-120973400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr12:120971800-120973400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:120971800-120973400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:120971800-120973400	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr12:120971800-120973400	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr12:120971800-120973400	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr12:120971800-120973400	Active TSS	Muscle Satellite Cultured Cells	--
24	chr12:120971800-120973400	Active TSS	Brain Anterior Caudate	brain
25	chr12:120971800-120973400	Active TSS	Brain Substantia Nigra	brain
26	chr12:120971800-120973400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr12:120971800-120973400	Active TSS	NHDF-Ad	bronchial
28	chr12:120971800-120973600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:120971800-120973600	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr12:120971800-120973600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:120971800-120973600	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr12:120971800-120973600	Active TSS	Brain Hippocampus Middle	brain
33	chr12:120971800-120973600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:120971800-120973600	Active TSS	Colon Smooth Muscle	Colon
35	chr12:120971800-120973600	Active TSS	Placenta	Placenta
36	chr12:120971800-120973600	Active TSS	HSMM	muscle
37	chr12:120971800-120973600	Active TSS	Osteobl	bone
38	chr12:120971800-120973800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:120971800-120973800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:120971800-120973800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:120971800-120973800	Active TSS	Fetal Muscle Trunk	muscle
42	chr12:120971800-120973800	Active TSS	Psoas Muscle	Psoas
43	chr12:120971800-120973800	Active TSS	NHLF	lung
44	chr12:120971800-120974000	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr12:120971800-120974000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:120971800-120974000	Active TSS	Colonic Mucosa	Colon
47	chr12:120971800-120974000	Active TSS	Left Ventricle	heart
48	chr12:120971800-120974000	Active TSS	Ovary	ovary
49	chr12:120971800-120974000	Active TSS	Right Ventricle	heart
50	chr12:120971800-120974000	Active TSS	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links