Variant report

Variant	rs377054423
Chromosome Location	chr12:120972756-120972757
allele	C/G/T
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	E2F6	chr12:120972478-120972835	K562	blood:	n/a	n/a
2	MXI1	chr12:120971971-120972843	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:120972034-120972845	A549	lung:	n/a	n/a
4	POLR2A	chr12:120972687-120973340	MCF10A-Er-Src	breast:	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	POLR2A	chr12:120972642-120973121	HepG2	liver:	n/a	n/a
8	MAX	chr12:120972010-120972952	A549	lung:	n/a	chr12:120972389-120972399 chr12:120972792-120972802
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	TAF7	chr12:120972515-120973031	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr12:120971857-120973059	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr12:120971879-120973377	GM12878	blood:	n/a	n/a
14	CTCF	chr12:120972680-120972830	GM12865	blood:	n/a	chr12:120972808-120972821
15	YY1	chr12:120971990-120973120	GM12891	blood:	n/a	chr12:120972412-120972423 chr12:120972795-120972804 chr12:120972789-120972803
16	POLR2A	chr12:120971999-120972901	K562	blood:	n/a	n/a
17	POLR2A	chr12:120971836-120973183	K562	blood:	n/a	n/a
18	HDAC2	chr12:120972558-120973153	K562	blood:	n/a	n/a
19	MYC	chr12:120971962-120973214	NB4	blood:	n/a	chr12:120972389-120972399 chr12:120972792-120972802
20	POLR2A	chr12:120971996-120972946	GM15510	blood:	n/a	n/a
21	POLR2A	chr12:120971853-120973287	PBDE	blood:	n/a	n/a
22	TAF1	chr12:120972607-120972911	K562	blood:	n/a	n/a
23	POLR2A	chr12:120971936-120972856	GM12892	blood:	n/a	n/a
24	CTCF	chr12:120972700-120972850	AG04449	skin:	n/a	chr12:120972808-120972821
25	SIN3AK20	chr12:120972681-120973022	A549	lung:	n/a	n/a
26	ELF1	chr12:120972443-120972792	K562	blood:	n/a	n/a
27	MXI1	chr12:120971902-120973622	GM12878	blood:	n/a	n/a
28	JUND	chr12:120971722-120973611	SK-N-SH	brain:	n/a	chr12:120973085-120973096 chr12:120971935-120971949
29	POLR2A	chr12:120972016-120972833	GM10847	blood:	n/a	n/a
30	RUNX3	chr12:120972575-120973264	GM12878	blood:	n/a	n/a
31	CTCF	chr12:120972720-120972870	Caco-2	colon:	n/a	chr12:120972808-120972821
32	POLR2A	chr12:120971896-120973126	H1-neurons	neurons:	n/a	n/a
33	SMARCB1	chr12:120972064-120972951	Hela-S3	cervix:	n/a	chr12:120972092-120972101
34	EGR1	chr12:120972613-120972957	K562	blood:	n/a	chr12:120972796-120972806 chr12:120972793-120972806 chr12:120972788-120972802 chr12:120972796-120972805
35	ATF3	chr12:120972673-120973325	K562	blood:	n/a	n/a
36	POLR2A	chr12:120971897-120973226	K562	blood:	n/a	n/a
37	CTCF	chr12:120972720-120972870	A549	lung:	n/a	chr12:120972808-120972821
38	POLR2A	chr12:120971930-120973167	GM12891	blood:	n/a	n/a
39	YY1	chr12:120972036-120973129	K562	blood:	n/a	chr12:120972412-120972423 chr12:120972795-120972804 chr12:120972789-120972803
40	SMC3	chr12:120972655-120973175	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr12:120972720-120972870	SK-N-SH_RA	brain:	n/a	chr12:120972808-120972821
42	HMGN3	chr12:120972117-120972911	K562	blood:	n/a	n/a
43	CTCF	chr12:120972589-120972914	K562	blood:	n/a	chr12:120972808-120972821
44	STAT1	chr12:120972668-120973067	GM12878	blood:	n/a	n/a
45	CTCF	chr12:120972740-120972890	GM12866	blood:	n/a	chr12:120972808-120972821
46	MXI1	chr12:120971997-120973216	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr12:120972680-120972830	HRE	kidney:	n/a	chr12:120972808-120972821
48	ZBTB7A	chr12:120972530-120973010	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr12:120972575-120973217	GM12891	blood:	n/a	n/a
50	ETS1	chr12:120972654-120972883	K562	blood:	n/a	n/a

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:

Variant related genes	Relation type
RNF10	TF binding region
COQ5	TF binding region
ENSG00000202538	Chromatin interaction
ENSG00000129351	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000167272	Chromatin interaction
ENSG00000111780	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000111775	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000267100	Chromatin interaction
ENSG00000088986	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	chr12:120971600-120972800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:120971600-120973000	Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr12:120971600-120973400	Active TSS	Brain Cingulate Gyrus	brain
7	chr12:120971600-120973600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:120971800-120972800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
9	chr12:120971800-120973000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:120971800-120973000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:120971800-120973000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:120971800-120973000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:120971800-120973000	Active TSS	Adipose Nuclei	Adipose
14	chr12:120971800-120973000	Active TSS	Liver	Liver
15	chr12:120971800-120973000	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr12:120971800-120973000	Active TSS	Fetal Brain Female	brain
17	chr12:120971800-120973000	Active TSS	Fetal Muscle Leg	muscle
18	chr12:120971800-120973000	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr12:120971800-120973000	Active TSS	NHEK	skin
20	chr12:120971800-120973200	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr12:120971800-120973200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:120971800-120973200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:120971800-120973200	Active TSS	Brain Angular Gyrus	brain
24	chr12:120971800-120973200	Active TSS	Fetal Lung	lung
25	chr12:120971800-120973200	Active TSS	Fetal Stomach	stomach
26	chr12:120971800-120973200	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr12:120971800-120973200	Active TSS	Stomach Smooth Muscle	stomach
28	chr12:120971800-120973200	Active TSS	Thymus	Thymus
29	chr12:120971800-120973200	Active TSS	HUVEC	blood vessel
30	chr12:120971800-120973200	Active TSS	K562	blood
31	chr12:120971800-120973400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr12:120971800-120973400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:120971800-120973400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:120971800-120973400	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr12:120971800-120973400	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr12:120971800-120973400	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr12:120971800-120973400	Active TSS	Muscle Satellite Cultured Cells	--
38	chr12:120971800-120973400	Active TSS	Brain Anterior Caudate	brain
39	chr12:120971800-120973400	Active TSS	Brain Substantia Nigra	brain
40	chr12:120971800-120973400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr12:120971800-120973400	Active TSS	NHDF-Ad	bronchial
42	chr12:120971800-120973600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:120971800-120973600	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr12:120971800-120973600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:120971800-120973600	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr12:120971800-120973600	Active TSS	Brain Hippocampus Middle	brain
47	chr12:120971800-120973600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:120971800-120973600	Active TSS	Colon Smooth Muscle	Colon
49	chr12:120971800-120973600	Active TSS	Placenta	Placenta
50	chr12:120971800-120973600	Active TSS	HSMM	muscle

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