Variant report

Variant	rs144668835
Chromosome Location	chr12:4757745-4757746
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:128)
CpG islands
(count:122)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:128 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr12:4757537-4758703	H1-hESC	embryonic stem cell:	n/a	n/a
2	RUNX3	chr12:4757725-4758567	GM12878	blood:	n/a	n/a
3	TEAD4	chr12:4757321-4757892	K562	blood:	n/a	n/a
4	POLR2A	chr12:4757126-4758599	MCF10A-Er-Src	breast:	n/a	n/a
5	ZNF143	chr12:4757548-4757747	GM12878	blood:	n/a	n/a
6	TBL1XR1	chr12:4757426-4758524	GM12878	blood:	n/a	n/a
7	STAT3	chr12:4757259-4758518	MCF10A-Er-Src	breast:	n/a	chr12:4757480-4757491
8	POLR2A	chr12:4757581-4758605	GM19193	blood:	n/a	n/a
9	MXI1	chr12:4757107-4759126	SK-N-SH	brain:	n/a	n/a
10	REST	chr12:4757476-4759419	H1-neurons	neurons:	n/a	n/a
11	MAX	chr12:4757530-4758433	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:4757603-4758640	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr12:4757657-4758587	K562	blood:	n/a	n/a
14	POLR2A	chr12:4757367-4758571	GM12878	blood:	n/a	n/a
15	SIN3A	chr12:4757582-4758974	H1-hESC	embryonic stem cell:	n/a	chr12:4758562-4758570
16	POLR2A	chr12:4757556-4758695	H1-neurons	neurons:	n/a	n/a
17	MAX	chr12:4757462-4758635	A549	lung:	n/a	n/a
18	REST	chr12:4757652-4758799	A549	lung:	n/a	n/a
19	POLR2A	chr12:4757502-4758642	Hela-S3	cervix:	n/a	n/a
20	YY1	chr12:4757730-4758668	H1-hESC	embryonic stem cell:	n/a	chr12:4758282-4758302 chr12:4757987-4758004 chr12:4758288-4758300
21	POLR2A	chr12:4757598-4758545	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr12:4757628-4758685	K562	blood:	n/a	n/a
23	MYC	chr12:4757330-4758468	K562	blood:	n/a	n/a
24	POLR2A	chr12:4757725-4758493	HEK293	kidney:	n/a	n/a
25	POLR2A	chr12:4757655-4758910	K562	blood:	n/a	n/a
26	MAX	chr12:4757429-4758616	Hela-S3	cervix:	n/a	n/a
27	FOS	chr12:4757345-4757771	MCF10A-Er-Src	breast:	n/a	n/a
28	TAF1	chr12:4757695-4758833	ECC-1	luminal epithelium:	n/a	n/a
29	MAX	chr12:4757589-4758545	K562	blood:	n/a	n/a
30	POLR2A	chr12:4757674-4758864	K562	blood:	n/a	n/a
31	POLR2A	chr12:4757562-4758670	GM12892	blood:	n/a	n/a
32	TBP	chr12:4757649-4758544	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr12:4757610-4758537	K562	blood:	n/a	n/a
34	RFX5	chr12:4757673-4758883	Hela-S3	cervix:	n/a	n/a
35	RCOR1	chr12:4757658-4758451	K562	blood:	n/a	n/a
36	ARID3A	chr12:4757430-4758315	K562	blood:	n/a	n/a
37	E2F6	chr12:4757614-4757761	K562	blood:	n/a	n/a
38	MYC	chr12:4757283-4758486	NB4	blood:	n/a	n/a
39	KAP1	chr12:4757565-4758872	HEK293	kidney:	n/a	chr12:4757802-4757810 chr12:4758453-4758461
40	TBP	chr12:4757585-4758624	H1-hESC	embryonic stem cell:	n/a	n/a
41	JUND	chr12:4757473-4758631	K562	blood:	n/a	chr12:4758116-4758125 chr12:4757905-4757913
42	MXI1	chr12:4757742-4758477	H1-hESC	embryonic stem cell:	n/a	n/a
43	SMC3	chr12:4757720-4758572	Hela-S3	cervix:	n/a	chr12:4758361-4758371
44	POLR2A	chr12:4757579-4757793	GM12891	blood:	n/a	n/a
45	MAX	chr12:4757528-4758534	HepG2	liver:	n/a	n/a
46	WRNIP1	chr12:4757621-4758584	GM12878	blood:	n/a	n/a
47	POLR2A	chr12:4757703-4758656	ProgFib	skin:	n/a	n/a
48	IRF1	chr12:4757649-4758939	K562	blood:	n/a	chr12:4757801-4757812 chr12:4758492-4758506 chr12:4758491-4758502 chr12:4758490-4758510 chr12:4758492-4758502 chr12:4758486-4758503 chr12:4758113-4758123 chr12:4758491-4758503 chr12:4757801-4757815 chr12:4758134-4758151 chr12:4757795-4757815 chr12:4757799-4757813 chr12:4758491-4758504 chr12:4758115-4758124
49	POLR2A	chr12:4757682-4758581	ECC-1	luminal epithelium:	n/a	n/a
50	RELA	chr12:4757276-4758531	GM19099	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:4757717-4757767	T-47D	breast:	n/a
2	chr12:4757717-4757767	HPAEpiC	pulmonary alveolar:	n/a
3	chr12:4757717-4757767	AG09319	gingival:	n/a
4	chr12:4757728-4757778	AG09309	skin:	n/a
5	chr12:4757728-4757778	HepG2	liver:	n/a
6	chr12:4757717-4757767	ovcar-3	ovarian:	n/a
7	chr12:4757728-4757778	GM12892	blood:	n/a
8	chr12:4757717-4757767	MCF10A-Er-Src	breast:	n/a
9	chr12:4757728-4757778	HRPEpiC	eye:	n/a
10	chr12:4757717-4757767	HCM	heart:	n/a
11	chr12:4757717-4757767	NB4	blood:	n/a
12	chr12:4757717-4757767	U87	brain:	n/a
13	chr12:4757728-4757778	SKMC	muscle:	n/a
14	chr12:4757728-4757778	ECC-1	luminal epithelium:	n/a
15	chr12:4757717-4757767	AG04450	lung:	fetal
16	chr12:4757717-4757767	HCT-116	colon:	n/a
17	chr12:4757717-4757767	NT2-D1	testis:	n/a
18	chr12:4757717-4757767	RPTEC	kidney:	n/a
19	chr12:4757728-4757778	LNCaP	prostate:	n/a
20	chr12:4757717-4757767	PrEC	prostate:	n/a
21	chr12:4757717-4757767	HEK293	kidney:	embryo
22	chr12:4757728-4757778	AG04450	lung:	fetal
23	chr12:4757728-4757778	AoSMC	blood vessel:	n/a
24	chr12:4757717-4757767	GM12878	blood:	n/a
25	chr12:4757717-4757767	IMR90	lung:	fetal
26	chr12:4757717-4757767	Caco-2	colon:	n/a
27	chr12:4757717-4757767	CMK	blood:	n/a
28	chr12:4757728-4757778	HRE	kidney:	n/a
29	chr12:4757728-4757778	AG09319	gingival:	n/a
30	chr12:4757728-4757778	GM12878	blood:	n/a
31	chr12:4757728-4757778	IMR90	lung:	fetal
32	chr12:4757728-4757778	NHBE	bronchial:	n/a
33	chr12:4757728-4757778	NH-A	brain:	n/a
34	chr12:4757728-4757778	SK-N-MC	brain:	n/a
35	chr12:4757728-4757778	MCF-7	breast:	n/a
36	chr12:4757728-4757778	A549	lung:	n/a
37	chr12:4757717-4757767	HUVEC	blood vessel:	n/a
38	chr12:4757717-4757767	GM12892	blood:	n/a
39	chr12:4757717-4757767	AG10803	skin:	n/a
40	chr12:4757717-4757767	Hepatocyte	liver:	n/a
41	chr12:4757728-4757778	Caco-2	colon:	n/a
42	chr12:4757717-4757767	Hela-S3	cervix:	n/a
43	chr12:4757728-4757778	HCM	heart:	n/a
44	chr12:4757728-4757778	H1-hESC	embryonic stem cell:	embryo
45	chr12:4757728-4757778	HEEpiC	esophagus:	n/a
46	chr12:4757728-4757778	HRCEpiC	kidney:	n/a
47	chr12:4757717-4757767	HCPEpiC	choroid plexus:	n/a
48	chr12:4757728-4757778	NB4	blood:	n/a
49	chr12:4757728-4757778	NT2-D1	testis:	n/a
50	chr12:4757717-4757767	GM19239	blood:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:4757018..4762059-chr12:4764285..4767290,6	K562	blood:
2	chr12:4756861..4759668-chr12:4760395..4765208,7	MCF-7	breast:
3	chr12:4751073..4755821-chr12:4757118..4761577,5	MCF-7	breast:
4	chr12:4757063..4759938-chr12:4760465..4764038,5	K562	blood:
5	chr12:4757537..4758351-chr2:9983167..9983703,2	Hela-S3	cervix:
6	chr12:4754845..4760714-chr12:4761830..4765057,7	MCF-7	breast:
7	chr12:4757573..4759938-chr12:4760465..4764276,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKAP3-3	chr12:4756240-4758165	NONHSAT025970
2	lnc-AKAP3-3	chr12:4757620-4758174	NONHSAT025968

No data

Variant related genes	Relation type
NDUFA9	TF binding region
AKAP3	TF binding region
AKAP3	CpG island
NDUFA9	CpG island
ENSG00000139180	Chromatin interaction
ENSG00000115750	Chromatin interaction
ENSG00000256381	Chromatin interaction
ENSG00000111254	Chromatin interaction
ENSG00000255639	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv898617	chr12:4715082-4768619	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv898618	chr12:4726068-4764137	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv898619	chr12:4737715-4771456	Active TSS Weak transcription Flanking Active TSS Enhancers 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	6 gene(s)	inside rSNPs	diseases
5	nsv898620	chr12:4745313-4771456	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv557125	chr12:4748410-4764137	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1036308	chr12:4748657-4804156	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv898621	chr12:4751798-4768193	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv898622	chr12:4751798-4768619	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv898623	chr12:4751798-4771456	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv898624	chr12:4757474-4769876	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr12:4756800-4757800	Flanking Active TSS	GM12878-XiMat	blood
2	chr12:4757000-4757800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:4757000-4757800	Flanking Active TSS	Dnd41	blood
4	chr12:4757000-4758000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:4757000-4758400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:4757000-4758800	Active TSS	Colonic Mucosa	Colon
7	chr12:4757000-4759200	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr12:4757200-4757800	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr12:4757200-4757800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr12:4757200-4757800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr12:4757200-4757800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr12:4757200-4757800	Flanking Active TSS	Brain Anterior Caudate	brain
13	chr12:4757200-4757800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
14	chr12:4757200-4757800	Flanking Active TSS	Colon Smooth Muscle	Colon
15	chr12:4757200-4757800	Flanking Active TSS	HUVEC	blood vessel
16	chr12:4757200-4758000	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr12:4757200-4758000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr12:4757200-4758200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:4757200-4758800	Active TSS	Brain Hippocampus Middle	brain
20	chr12:4757200-4758800	Active TSS	Fetal Stomach	stomach
21	chr12:4757200-4758800	Active TSS	Stomach Smooth Muscle	stomach
22	chr12:4757200-4759000	Active TSS	NHLF	lung
23	chr12:4757200-4759200	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr12:4757200-4759200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:4757200-4759200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:4757200-4759400	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr12:4757200-4759400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:4757200-4759400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:4757200-4759400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:4757200-4759400	Active TSS	K562	blood
31	chr12:4757200-4759400	Active TSS	NHDF-Ad	bronchial
32	chr12:4757200-4760200	Active TSS	Right Atrium	heart
33	chr12:4757400-4757800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:4757400-4757800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:4757400-4757800	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr12:4757400-4757800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr12:4757400-4757800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:4757400-4757800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr12:4757400-4757800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr12:4757400-4757800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr12:4757400-4757800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:4757400-4757800	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr12:4757400-4757800	Flanking Active TSS	Liver	Liver
44	chr12:4757400-4757800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:4757400-4757800	Flanking Active TSS	NH-A	brain
46	chr12:4757400-4758000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr12:4757400-4758000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr12:4757400-4758000	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr12:4757400-4758800	Active TSS	Brain Cingulate Gyrus	brain
50	chr12:4757400-4758800	Active TSS	Brain Germinal Matrix	brain

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