Variant report

Variant	rs552148097
Chromosome Location	chr12:120972112-120972113
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:314)
CpG islands
(count:61)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr12:120971978-120972239	MCF10A-Er-Src	breast:	n/a	chr12:120972099-120972107 chr12:120972111-120972123 chr12:120972097-120972108 chr12:120972096-120972110
2	RFX5	chr12:120972050-120972335	HepG2	liver:	n/a	n/a
3	MXI1	chr12:120971971-120972843	HepG2	liver:	n/a	n/a
4	POLR2A	chr12:120972034-120972845	A549	lung:	n/a	n/a
5	TBL1XR1	chr12:120971915-120972351	GM12878	blood:	n/a	n/a
6	TBP	chr12:120971931-120972331	HepG2	liver:	n/a	n/a
7	POLR2A	chr12:120971990-120972384	HCT-116	colon:	n/a	n/a
8	MAX	chr12:120972051-120972720	MCF-7	breast:	n/a	chr12:120972389-120972399
9	ETS1	chr12:120971891-120972352	GM12878	blood:	n/a	chr12:120971953-120971966 chr12:120972091-120972104
10	MAZ	chr12:120972047-120972374	HepG2	liver:	n/a	n/a
11	MAX	chr12:120971939-120973247	Hela-S3	cervix:	n/a	chr12:120972389-120972399 chr12:120972792-120972802
12	TCF12	chr12:120972028-120972755	ECC-1	luminal epithelium:	n/a	n/a
13	JUND	chr12:120971971-120972403	K562	blood:	n/a	n/a
14	UBTF	chr12:120972082-120973289	K562	blood:	n/a	n/a
15	POLR2A	chr12:120971925-120972590	H1-hESC	embryonic stem cell:	n/a	n/a
16	TAF1	chr12:120972051-120972276	GM12892	blood:	n/a	n/a
17	YY1	chr12:120972002-120972356	NT2-D1	testis:	n/a	n/a
18	RUNX3	chr12:120971802-120972330	GM12878	blood:	n/a	n/a
19	YY1	chr12:120971970-120972623	H1-hESC	embryonic stem cell:	n/a	chr12:120972412-120972423
20	TEAD4	chr12:120971934-120972379	K562	blood:	n/a	n/a
21	TAF1	chr12:120972025-120972341	SK-N-SH	brain:	n/a	n/a
22	MAX	chr12:120972010-120972952	A549	lung:	n/a	chr12:120972389-120972399 chr12:120972792-120972802
23	REST	chr12:120971874-120973214	H1-neurons	neurons:	n/a	chr12:120972803-120972821 chr12:120972789-120972802 chr12:120972802-120972822
24	ETS1	chr12:120971886-120972342	A549	lung:	n/a	chr12:120971953-120971966 chr12:120972091-120972104
25	POLR2A	chr12:120971857-120973059	Hela-S3	cervix:	n/a	n/a
26	SIX5	chr12:120971832-120972360	GM12878	blood:	n/a	chr12:120972092-120972101 chr12:120972094-120972103 chr12:120972089-120972098 chr12:120972090-120972104
27	POLR2A	chr12:120971879-120973377	GM12878	blood:	n/a	n/a
28	TAF1	chr12:120972062-120972370	H1-neurons	neurons:	n/a	n/a
29	YY1	chr12:120971990-120973120	GM12891	blood:	n/a	chr12:120972412-120972423 chr12:120972795-120972804 chr12:120972789-120972803
30	POLR2A	chr12:120971999-120972901	K562	blood:	n/a	n/a
31	POLR2A	chr12:120971836-120973183	K562	blood:	n/a	n/a
32	MAX	chr12:120972010-120972484	ECC-1	luminal epithelium:	n/a	chr12:120972389-120972399
33	MAX	chr12:120972060-120972474	K562	blood:	n/a	chr12:120972389-120972399
34	TBL1XR1	chr12:120971846-120972286	K562	blood:	n/a	n/a
35	POLR2A	chr12:120972000-120972403	K562	blood:	n/a	n/a
36	RUNX3	chr12:120971827-120972406	GM12878	blood:	n/a	n/a
37	MYC	chr12:120971962-120973214	NB4	blood:	n/a	chr12:120972389-120972399 chr12:120972792-120972802
38	YY1	chr12:120972000-120972348	GM12892	blood:	n/a	n/a
39	POLR2A	chr12:120971996-120972946	GM15510	blood:	n/a	n/a
40	POLR2A	chr12:120971853-120973287	PBDE	blood:	n/a	n/a
41	POLR2A	chr12:120971936-120972856	GM12892	blood:	n/a	n/a
42	YY1	chr12:120972011-120972470	HCT-116	colon:	n/a	chr12:120972412-120972423
43	YY1	chr12:120972011-120972537	GM12891	blood:	n/a	chr12:120972412-120972423
44	MXI1	chr12:120971902-120973622	GM12878	blood:	n/a	n/a
45	JUND	chr12:120971722-120973611	SK-N-SH	brain:	n/a	chr12:120973085-120973096 chr12:120971935-120971949
46	POLR2A	chr12:120972016-120972833	GM10847	blood:	n/a	n/a
47	YY1	chr12:120972084-120972225	K562	blood:	n/a	n/a
48	POLR2A	chr12:120971896-120973126	H1-neurons	neurons:	n/a	n/a
49	SMARCB1	chr12:120972064-120972951	Hela-S3	cervix:	n/a	chr12:120972092-120972101
50	POLR2A	chr12:120971897-120973226	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120972070-120972120	HCF	heart:	n/a
2	chr12:120972070-120972120	HRE	kidney:	n/a
3	chr12:120972070-120972120	NHBE	bronchial:	n/a
4	chr12:120972070-120972120	GM12892	blood:	n/a
5	chr12:120972070-120972120	T-47D	breast:	n/a
6	chr12:120972070-120972120	SK-N-SH_RA	brain:	n/a
7	chr12:120972070-120972120	HNPCEpiC	eye:	n/a
8	chr12:120972070-120972120	ECC-1	luminal epithelium:	n/a
9	chr12:120972070-120972120	A549	lung:	n/a
10	chr12:120972070-120972120	U87	brain:	n/a
11	chr12:120972070-120972120	SAEC	small airway:	n/a
12	chr12:120972070-120972120	GM12878	blood:	n/a
13	chr12:120972070-120972120	SK-N-MC	brain:	n/a
14	chr12:120972070-120972120	ProgFib	skin:	n/a
15	chr12:120972070-120972120	SK-N-SH	brain:	n/a
16	chr12:120972070-120972120	HAEpiC	amniotic membrane:	n/a
17	chr12:120972070-120972120	BE2_C	brain:	n/a
18	chr12:120972070-120972120	HEEpiC	esophagus:	n/a
19	chr12:120972070-120972120	HCT-116	colon:	n/a
20	chr12:120972070-120972120	AG09319	gingival:	n/a
21	chr12:120972070-120972120	H1-hESC	embryonic stem cell:	embryo
22	chr12:120972070-120972120	PANC-1	pancreas:	n/a
23	chr12:120972070-120972120	HPAEpiC	pulmonary alveolar:	n/a
24	chr12:120972070-120972120	ovcar-3	ovarian:	n/a
25	chr12:120972070-120972120	PFSK-1	brain:	n/a
26	chr12:120972070-120972120	AG04449	skin:	fetal
27	chr12:120972070-120972120	Hela-S3	cervix:	n/a
28	chr12:120972070-120972120	MCF10A-Er-Src	breast:	n/a
29	chr12:120972070-120972120	AG10803	skin:	n/a
30	chr12:120972070-120972120	AoSMC	blood vessel:	n/a
31	chr12:120972070-120972120	SKMC	muscle:	n/a
32	chr12:120972070-120972120	NT2-D1	testis:	n/a
33	chr12:120972070-120972120	CMK	blood:	n/a
34	chr12:120972070-120972120	MCF-7	breast:	n/a
35	chr12:120972070-120972120	Hepatocyte	liver:	n/a
36	chr12:120972070-120972120	BJ	skin:	n/a
37	chr12:120972070-120972120	HCPEpiC	choroid plexus:	n/a
38	chr12:120972070-120972120	HRCEpiC	kidney:	n/a
39	chr12:120972070-120972120	LNCaP	prostate:	n/a
40	chr12:120972070-120972120	NHDF-neo	bronchial:	n/a
41	chr12:120972070-120972120	HRPEpiC	eye:	n/a
42	chr12:120972070-120972120	HCM	heart:	n/a
43	chr12:120972070-120972120	HUVEC	blood vessel:	n/a
44	chr12:120972070-120972120	Jurkat	blood:	n/a
45	chr12:120972070-120972120	HL-60	blood:	n/a
46	chr12:120972070-120972120	GM12891	blood:	n/a
47	chr12:120972070-120972120	HIPEpiC	eye:	n/a
48	chr12:120972070-120972120	HEK293	kidney:	embryo
49	chr12:120972070-120972120	GM19239	blood:	n/a
50	chr12:120972070-120972120	PrEC	prostate:	n/a

(count:18 , 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	chr12:120972103..120972651-chr17:80250321..80251237,2	Hela-S3	cervix:
5	chr12:120728453..120733011-chr12:120965347..120973411,16	MCF-7	breast:
6	chr12:120931985..120935585-chr12:120970035..120974742,8	MCF-7	breast:
7	chr12:120905043..120908623-chr12:120970585..120973644,4	K562	blood:
8	chr12:120882042..120885526-chr12:120971268..120975128,6	K562	blood:
9	chr12:120932493..120935871-chr12:120970423..120972998,4	K562	blood:
10	chr12:120932857..120935871-chr12:120969535..120974885,9	K562	blood:
11	chr12:120906126..120908752-chr12:120971938..120973464,2	MCF-7	breast:
12	chr12:120933021..120935221-chr12:120970996..120973452,2	MCF-7	breast:
13	chr12:120964646..120969249-chr12:120969286..120973951,11	MCF-7	breast:
14	chr12:120971743..120974059-chr12:121017467..121020168,3	MCF-7	breast:
15	chr12:120729269..120732334-chr12:120971435..120974602,3	K562	blood:
16	chr1:212458466..212459172-chr12:120972086..120972631,2	Hela-S3	cervix:
17	chr12:120728052..120732322-chr12:120971723..120974902,6	MCF-7	breast:
18	chr12:120905762..120908724-chr12:120970875..120974820,5	MCF-7	breast:

No data

Variant related genes	Relation type
RNF10	TF binding region
RNF10	CpG island
ENSG00000110871	Chromatin interaction
ENSG00000066027	Chromatin interaction
ENSG00000265692	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000167272	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000257218	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120967200-120972200	Weak transcription	Spleen	Spleen
2	chr12:120967400-120972200	Weak transcription	Lung	lung
3	chr12:120967400-120972200	Weak transcription	Small Intestine	intestine
4	chr12:120967600-120972200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:120970800-120972200	Weak transcription	Fetal Heart	heart
6	chr12:120971200-120973800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:120971400-120973400	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr12:120971400-120974000	Active TSS	Duodenum Mucosa	Duodenum
9	chr12:120971600-120972800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:120971600-120973000	Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr12:120971600-120973400	Active TSS	Brain Cingulate Gyrus	brain
12	chr12:120971600-120973600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:120971800-120972200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
14	chr12:120971800-120972200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr12:120971800-120972200	Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr12:120971800-120972200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:120971800-120972200	Active TSS	HepG2	liver
18	chr12:120971800-120972400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:120971800-120972800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
20	chr12:120971800-120973000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:120971800-120973000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:120971800-120973000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:120971800-120973000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:120971800-120973000	Active TSS	Adipose Nuclei	Adipose
25	chr12:120971800-120973000	Active TSS	Liver	Liver
26	chr12:120971800-120973000	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr12:120971800-120973000	Active TSS	Fetal Brain Female	brain
28	chr12:120971800-120973000	Active TSS	Fetal Muscle Leg	muscle
29	chr12:120971800-120973000	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr12:120971800-120973000	Active TSS	NHEK	skin
31	chr12:120971800-120973200	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr12:120971800-120973200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:120971800-120973200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:120971800-120973200	Active TSS	Brain Angular Gyrus	brain
35	chr12:120971800-120973200	Active TSS	Fetal Lung	lung
36	chr12:120971800-120973200	Active TSS	Fetal Stomach	stomach
37	chr12:120971800-120973200	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr12:120971800-120973200	Active TSS	Stomach Smooth Muscle	stomach
39	chr12:120971800-120973200	Active TSS	Thymus	Thymus
40	chr12:120971800-120973200	Active TSS	HUVEC	blood vessel
41	chr12:120971800-120973200	Active TSS	K562	blood
42	chr12:120971800-120973400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr12:120971800-120973400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:120971800-120973400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:120971800-120973400	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr12:120971800-120973400	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr12:120971800-120973400	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr12:120971800-120973400	Active TSS	Muscle Satellite Cultured Cells	--
49	chr12:120971800-120973400	Active TSS	Brain Anterior Caudate	brain
50	chr12:120971800-120973400	Active TSS	Brain Substantia Nigra	brain

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