Variant report

Variant	rs552002605
Chromosome Location	chr12:124456438-124456439
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:74)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:74 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr12:124456239-124456782	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:124456091-124456768	H1-neurons	neurons:	n/a	n/a
3	TEAD4	chr12:124456257-124456646	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAZ	chr12:124455899-124458832	IMR90	lung:	n/a	chr12:124457562-124457572 chr12:124457558-124457568 chr12:124457947-124457957 chr12:124457536-124457545 chr12:124457385-124457395
5	POLR2A	chr12:124456052-124456607	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr12:124456328-124456602	MCF-7	breast:	n/a	n/a
7	IRF1	chr12:124456089-124456459	K562	blood:	n/a	n/a
8	SIN3AK20	chr12:124456306-124456636	H1-hESC	embryonic stem cell:	n/a	n/a
9	STAT3	chr12:124456063-124456565	MCF10A-Er-Src	breast:	n/a	n/a
10	ZNF274	chr12:124456307-124456640	H1-hESC	embryonic stem cell:	n/a	n/a
11	RCOR1	chr12:124456428-124456443	K562	blood:	n/a	n/a
12	MXI1	chr12:124455887-124459788	SK-N-SH	brain:	n/a	n/a
13	TAF1	chr12:124456137-124456681	H1-neurons	neurons:	n/a	n/a
14	ZBTB7A	chr12:124456420-124457960	K562	blood:	n/a	n/a
15	RCOR1	chr12:124456234-124456590	K562	blood:	n/a	n/a
16	UBTF	chr12:124456240-124458968	K562	blood:	n/a	n/a
17	ZNF263	chr12:124456125-124456660	HEK293-T-REx	kidney:	n/a	chr12:124456545-124456554
18	SIN3AK20	chr12:124456191-124456660	SK-N-SH	brain:	n/a	n/a
19	MAFK	chr12:124456267-124456440	HepG2	liver:	n/a	n/a
20	WRNIP1	chr12:124456330-124456470	GM12878	blood:	n/a	n/a
21	MAX	chr12:124456226-124456602	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr12:124456182-124456662	H1-hESC	embryonic stem cell:	n/a	n/a
23	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
24	ELF1	chr12:124456223-124456985	GM12878	blood:	n/a	n/a
25	BCL11A	chr12:124456382-124456621	H1-hESC	embryonic stem cell:	n/a	n/a
26	SP4	chr12:124456222-124456798	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr12:124456203-124456611	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr12:124456252-124456452	HepG2	liver:	n/a	n/a
29	CTBP2	chr12:124456277-124456852	H1-hESC	embryonic stem cell:	n/a	n/a
30	UBTF	chr12:124456271-124456741	K562	blood:	n/a	n/a
31	POLR2A	chr12:124456215-124456731	H1-hESC	embryonic stem cell:	n/a	n/a
32	ARID3A	chr12:124456201-124456464	HepG2	liver:	n/a	n/a
33	MAZ	chr12:124456256-124456456	HepG2	liver:	n/a	n/a
34	TEAD4	chr12:124456375-124456687	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr12:124456183-124456619	HepG2	liver:	n/a	n/a
36	RAD21	chr12:124456192-124456485	SK-N-SH_RA	brain:	n/a	n/a
37	JUND	chr12:124456330-124456608	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr12:124456372-124456651	K562	blood:	n/a	n/a
39	MYC	chr12:124456430-124456456	K562	blood:	n/a	n/a
40	NANOG	chr12:124456288-124456555	H1-hESC	embryonic stem cell:	n/a	n/a
41	CREB1	chr12:124456254-124456651	H1-hESC	embryonic stem cell:	n/a	n/a
42	FOXA1	chr12:124456206-124456504	T-47D	breast:	n/a	n/a
43	POLR2A	chr12:124456265-124456614	HepG2	liver:	n/a	n/a
44	ELF1	chr12:124456208-124456580	K562	blood:	n/a	n/a
45	STAT3	chr12:124455995-124456529	MCF10A-Er-Src	breast:	n/a	n/a
46	TCF12	chr12:124456195-124456709	H1-hESC	embryonic stem cell:	n/a	n/a
47	JUND	chr12:124456268-124456662	H1-hESC	embryonic stem cell:	n/a	n/a
48	RXRA	chr12:124456281-124456690	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr12:124456334-124456664	H1-hESC	embryonic stem cell:	n/a	n/a
50	HDAC2	chr12:124456433-124456735	HepG2	liver:	n/a	n/a

No data

(count:12 , 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	chr12:124443831..124448109-chr12:124456314..124459797,5	K562	blood:
6	chr12:124450274..124453930-chr12:124454051..124458606,8	K562	blood:
7	chr12:124456109..124458010-chr17:60780590..60782745,2	MCF-7	breast:
8	chr12:124419696..124421587-chr12:124455495..124458360,2	MCF-7	breast:
9	chr12:124450327..124455412-chr12:124455418..124460730,10	K562	blood:
10	chr12:124426853..124428789-chr12:124454676..124457058,3	K562	blood:
11	chr12:124195456..124198460-chr12:124455550..124458339,3	MCF-7	breast:
12	chr12:124116659..124120709-chr12:124455290..124460616,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000270061	TF binding region
ENSG00000270095	TF binding region
ENSG00000269938	TF binding region
FAM101A	TF binding region
ZNF664	TF binding region
ENSG00000135446	Chromatin interaction
ENSG00000173838	Chromatin interaction
ENSG00000119242	Chromatin interaction
ENSG00000270130	Chromatin interaction
ENSG00000185344	Chromatin interaction
ENSG00000269938	Chromatin interaction
ENSG00000269997	Chromatin interaction
ENSG00000197653	Chromatin interaction
ENSG00000270061	Chromatin interaction
ENSG00000139266	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000270048	Chromatin interaction
ENSG00000270005	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv3331641	chr12:124456249-124458547	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription 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:126 , 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	chr12:124455000-124458600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:124455200-124459000	Active TSS	NHDF-Ad	bronchial
5	chr12:124455600-124456800	Active TSS	Brain Germinal Matrix	brain
6	chr12:124455600-124458600	Active TSS	Osteobl	bone
7	chr12:124455600-124458800	Active TSS	HMEC	breast
8	chr12:124455600-124459000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:124455600-124459400	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr12:124455600-124459400	Active TSS	Fetal Intestine Large	intestine
11	chr12:124455800-124456600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr12:124455800-124456600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:124455800-124456600	Flanking Active TSS	HUVEC	blood vessel
14	chr12:124455800-124456800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:124455800-124456800	Flanking Active TSS	Liver	Liver
16	chr12:124455800-124457000	Active TSS	Stomach Mucosa	stomach
17	chr12:124455800-124458600	Active TSS	Brain Anterior Caudate	brain
18	chr12:124455800-124458600	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr12:124455800-124458600	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr12:124455800-124458600	Active TSS	Stomach Smooth Muscle	stomach
21	chr12:124455800-124458800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:124455800-124458800	Active TSS	Brain Angular Gyrus	brain
23	chr12:124455800-124458800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:124455800-124459000	Active TSS	Fetal Intestine Small	intestine
25	chr12:124456000-124456600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:124456000-124456600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr12:124456000-124456600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr12:124456000-124456600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:124456000-124456600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr12:124456000-124456600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:124456000-124456600	Flanking Active TSS	Hela-S3	cervix
32	chr12:124456000-124456600	Flanking Active TSS	K562	blood
33	chr12:124456000-124456800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr12:124456000-124456800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:124456000-124456800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr12:124456000-124456800	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr12:124456000-124456800	Active TSS	Fetal Kidney	kidney
38	chr12:124456000-124456800	Flanking Active TSS	Dnd41	blood
39	chr12:124456000-124457000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:124456000-124457000	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr12:124456000-124457000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:124456000-124457000	Bivalent/Poised TSS	HepG2	liver
43	chr12:124456000-124458600	Active TSS	Brain Substantia Nigra	brain
44	chr12:124456000-124458600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr12:124456000-124458600	Active TSS	Psoas Muscle	Psoas
46	chr12:124456000-124458600	Active TSS	Rectal Smooth Muscle	rectum
47	chr12:124456000-124458600	Active TSS	Thymus	Thymus
48	chr12:124456000-124458800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:124456000-124458800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:124456000-124458800	Active TSS	Aorta	Aorta

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