Variant report

Variant	rs533186945
Chromosome Location	chr12:124456231-124456232
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:124456091-124456768	H1-neurons	neurons:	n/a	n/a
2	MAZ	chr12:124455899-124458832	IMR90	lung:	n/a	chr12:124457562-124457572 chr12:124457558-124457568 chr12:124457947-124457957 chr12:124457536-124457545 chr12:124457385-124457395
3	POLR2A	chr12:124456052-124456607	H1-neurons	neurons:	n/a	n/a
4	IRF1	chr12:124456089-124456459	K562	blood:	n/a	n/a
5	STAT3	chr12:124456063-124456565	MCF10A-Er-Src	breast:	n/a	n/a
6	MXI1	chr12:124455887-124459788	SK-N-SH	brain:	n/a	n/a
7	TAF1	chr12:124456137-124456681	H1-neurons	neurons:	n/a	n/a
8	ZNF263	chr12:124456125-124456660	HEK293-T-REx	kidney:	n/a	chr12:124456545-124456554
9	SIN3AK20	chr12:124456191-124456660	SK-N-SH	brain:	n/a	n/a
10	MAX	chr12:124456226-124456602	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr12:124456182-124456662	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr12:124456193-124456379	ProgFib	skin:	n/a	n/a
13	REST	chr12:124455987-124459250	H1-neurons	neurons:	n/a	chr12:124458758-124458766 chr12:124458339-124458352 chr12:124457841-124457854 chr12:124456713-124456733 chr12:124458582-124458591 chr12:124457610-124457620
14	ELF1	chr12:124456223-124456985	GM12878	blood:	n/a	n/a
15	SP4	chr12:124456222-124456798	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr12:124456203-124456611	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr12:124456215-124456731	H1-hESC	embryonic stem cell:	n/a	n/a
18	ARID3A	chr12:124456201-124456464	HepG2	liver:	n/a	n/a
19	POLR2A	chr12:124456183-124456619	HepG2	liver:	n/a	n/a
20	RAD21	chr12:124456192-124456485	SK-N-SH_RA	brain:	n/a	n/a
21	FOXA1	chr12:124456206-124456504	T-47D	breast:	n/a	n/a
22	MAFK	chr12:124456132-124456413	HepG2	liver:	n/a	n/a
23	ELF1	chr12:124456208-124456580	K562	blood:	n/a	n/a
24	STAT3	chr12:124455995-124456529	MCF10A-Er-Src	breast:	n/a	n/a
25	TCF12	chr12:124456195-124456709	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAFK	chr12:124455840-124456417	IMR90	lung:	n/a	n/a
27	CTCF	chr12:124456160-124456310	A549	lung:	n/a	n/a
28	NANOG	chr12:124456189-124456651	H1-hESC	embryonic stem cell:	n/a	n/a
29	MYBL2	chr12:124456114-124456682	HepG2	liver:	n/a	n/a
30	MXI1	chr12:124455833-124459062	IMR90	lung:	n/a	n/a
31	TBP	chr12:124456196-124456422	HepG2	liver:	n/a	n/a
32	ATF2	chr12:124456208-124456743	H1-hESC	embryonic stem cell:	n/a	n/a
33	STAT3	chr12:124456133-124456386	GM12878	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:124117230..124119880-chr12:124454893..124459230,4	K562	blood:
2	chr12:58147914..58149817-chr12:124454309..124457254,2	MCF-7	breast:
3	chr12:124442245..124448648-chr12:124455013..124459797,7	K562	blood:
4	chr12:124389950..124393053-chr12:124455413..124457949,3	MCF-7	breast:
5	chr12:124450274..124453930-chr12:124454051..124458606,8	K562	blood:
6	chr12:124456109..124458010-chr17:60780590..60782745,2	MCF-7	breast:
7	chr12:124419696..124421587-chr12:124455495..124458360,2	MCF-7	breast:
8	chr12:124450327..124455412-chr12:124455418..124460730,10	K562	blood:
9	chr12:124426853..124428789-chr12:124454676..124457058,3	K562	blood:
10	chr12:124195456..124198460-chr12:124455550..124458339,3	MCF-7	breast:
11	chr12:124116659..124120709-chr12:124455290..124460616,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNAH10OS-8	chr12:124456004-124456261	ENSG00000270095.1

No data

Variant related genes	Relation type
ENSG00000270061	TF binding region
ENSG00000269938	TF binding region
FAM101A	TF binding region
ZNF664	TF binding region
ENSG00000111361	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000119242	Chromatin interaction
ENSG00000139266	Chromatin interaction
ENSG00000270130	Chromatin interaction
ENSG00000270048	Chromatin interaction
ENSG00000197653	Chromatin interaction
ENSG00000269997	Chromatin interaction
ENSG00000185344	Chromatin interaction
ENSG00000269938	Chromatin interaction
ENSG00000270061	Chromatin interaction
ENSG00000173838	Chromatin interaction
ENSG00000270005	Chromatin interaction
ENSG00000135446	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3404000	chr12:124455199-124459397	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv3437066	chr12:124455824-124458572	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr12:124454600-124457400	Active TSS	Right Atrium	heart
2	chr12:124454600-124459800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:124455000-124456400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:124455000-124458600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:124455200-124459000	Active TSS	NHDF-Ad	bronchial
6	chr12:124455600-124456400	Active TSS	Fetal Brain Female	brain
7	chr12:124455600-124456800	Active TSS	Brain Germinal Matrix	brain
8	chr12:124455600-124458600	Active TSS	Osteobl	bone
9	chr12:124455600-124458800	Active TSS	HMEC	breast
10	chr12:124455600-124459000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:124455600-124459400	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr12:124455600-124459400	Active TSS	Fetal Intestine Large	intestine
13	chr12:124455800-124456400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:124455800-124456400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:124455800-124456400	Flanking Active TSS	NHEK	skin
16	chr12:124455800-124456600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr12:124455800-124456600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:124455800-124456600	Flanking Active TSS	HUVEC	blood vessel
19	chr12:124455800-124456800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:124455800-124456800	Flanking Active TSS	Liver	Liver
21	chr12:124455800-124457000	Active TSS	Stomach Mucosa	stomach
22	chr12:124455800-124458600	Active TSS	Brain Anterior Caudate	brain
23	chr12:124455800-124458600	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr12:124455800-124458600	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr12:124455800-124458600	Active TSS	Stomach Smooth Muscle	stomach
26	chr12:124455800-124458800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:124455800-124458800	Active TSS	Brain Angular Gyrus	brain
28	chr12:124455800-124458800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:124455800-124459000	Active TSS	Fetal Intestine Small	intestine
30	chr12:124456000-124456400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:124456000-124456400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr12:124456000-124456400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
33	chr12:124456000-124456400	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr12:124456000-124456400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr12:124456000-124456400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:124456000-124456400	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr12:124456000-124456400	Flanking Active TSS	Fetal Lung	lung
38	chr12:124456000-124456400	Flanking Active TSS	Fetal Stomach	stomach
39	chr12:124456000-124456400	Flanking Active TSS	HSMMtube	muscle
40	chr12:124456000-124456600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:124456000-124456600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr12:124456000-124456600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr12:124456000-124456600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:124456000-124456600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr12:124456000-124456600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:124456000-124456600	Flanking Active TSS	Hela-S3	cervix
47	chr12:124456000-124456600	Flanking Active TSS	K562	blood
48	chr12:124456000-124456800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr12:124456000-124456800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:124456000-124456800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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