Variant report

Variant	rs373106144
Chromosome Location	chr12:64174473-64174474
allele	A/G
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	POLR2A	chr12:64173377-64174513	GM12892	blood:	n/a	n/a
2	POLR2A	chr12:64173566-64174538	GM12878	blood:	n/a	n/a
3	SIN3A	chr12:64173326-64174528	H1-hESC	embryonic stem cell:	n/a	chr12:64173958-64173969 chr12:64173605-64173614
4	TCF12	chr12:64173426-64174481	ECC-1	luminal epithelium:	n/a	chr12:64173955-64173965
5	SIN3AK20	chr12:64173330-64174526	MCF-7	breast:	n/a	n/a
6	MAX	chr12:64173140-64174536	A549	lung:	n/a	chr12:64174158-64174171 chr12:64174158-64174168 chr12:64174160-64174167 chr12:64173548-64173558 chr12:64174162-64174169
7	POLR2A	chr12:64173259-64174481	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr12:64173169-64175918	MCF10A-Er-Src	breast:	n/a	n/a
9	MAX	chr12:64173870-64174499	H1-hESC	embryonic stem cell:	n/a	chr12:64174158-64174171 chr12:64174158-64174168 chr12:64174160-64174167 chr12:64174162-64174169
10	ATF3	chr12:64173856-64174492	A549	lung:	n/a	chr12:64174431-64174441
11	GABPA	chr12:64173321-64174503	MCF-7	breast:	n/a	chr12:64173550-64173559
12	E2F6	chr12:64173247-64174587	A549	lung:	n/a	chr12:64173550-64173559 chr12:64173554-64173564
13	E2F6	chr12:64173657-64174563	H1-hESC	embryonic stem cell:	n/a	n/a
14	MYC	chr12:64173362-64174527	K562	blood:	n/a	chr12:64174158-64174171 chr12:64174158-64174168 chr12:64174160-64174167 chr12:64173548-64173558 chr12:64174162-64174169
15	POLR2A	chr12:64173134-64174549	MCF10A-Er-Src	breast:	n/a	n/a
16	TCF12	chr12:64173122-64174548	A549	lung:	n/a	chr12:64173955-64173965
17	POLR2A	chr12:64173297-64174520	GM12878	blood:	n/a	n/a
18	IRF1	chr12:64173580-64174494	K562	blood:	n/a	chr12:64174366-64174380 chr12:64174368-64174388 chr12:64174370-64174384 chr12:64174370-64174380 chr12:64173589-64173603 chr12:64174364-64174381
19	REST	chr12:64173285-64174576	H1-neurons	neurons:	n/a	chr12:64174111-64174124 chr12:64173984-64173994
20	MAX	chr12:64173026-64174635	A549	lung:	n/a	chr12:64174158-64174171 chr12:64174158-64174168 chr12:64174160-64174167 chr12:64173548-64173558 chr12:64174162-64174169
21	POLR2A	chr12:64173252-64174504	GM12892	blood:	n/a	n/a
22	PML	chr12:64173404-64174527	GM12878	blood:	n/a	chr12:64174369-64174377
23	NFIC	chr12:64173454-64174478	ECC-1	luminal epithelium:	n/a	n/a
24	IRF1	chr12:64173654-64174595	K562	blood:	n/a	chr12:64174548-64174557 chr12:64174366-64174380 chr12:64174368-64174388 chr12:64174370-64174384 chr12:64174370-64174380 chr12:64174364-64174381
25	POLR2A	chr12:64173232-64174486	K562	blood:	n/a	n/a
26	MXI1	chr12:64173278-64174722	GM12878	blood:	n/a	n/a
27	MYC	chr12:64173966-64174922	MCF10A-Er-Src	breast:	n/a	chr12:64174158-64174171 chr12:64174158-64174168 chr12:64174160-64174167 chr12:64174162-64174169
28	POLR2A	chr12:64173233-64174474	SK-N-MC	brain:	n/a	n/a
29	SIN3AK20	chr12:64173589-64174588	MCF-7	breast:	n/a	n/a
30	POLR2A	chr12:64173270-64174535	K562	blood:	n/a	n/a
31	TBP	chr12:64173621-64174478	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr12:64174390-64174586	HepG2	liver:	n/a	n/a
33	CUX1	chr12:64174436-64174506	GM12878	blood:	n/a	n/a
34	SIN3AK20	chr12:64173270-64174495	HCT-116	colon:	n/a	n/a
35	RCOR1	chr12:64173327-64174478	Hela-S3	cervix:	n/a	n/a
36	MXI1	chr12:64173334-64174691	K562	blood:	n/a	n/a
37	MAX	chr12:64173072-64174555	ECC-1	luminal epithelium:	n/a	chr12:64174158-64174171 chr12:64174158-64174168 chr12:64174160-64174167 chr12:64173548-64173558 chr12:64174162-64174169
38	MAX	chr12:64173776-64174558	SK-N-SH	brain:	n/a	chr12:64174158-64174171 chr12:64174158-64174168 chr12:64174160-64174167 chr12:64174162-64174169
39	POLR2A	chr12:64173523-64174490	GM12891	blood:	n/a	n/a
40	E2F6	chr12:64173694-64174473	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr12:64173243-64174521	GM12891	blood:	n/a	n/a
42	MYC	chr12:64173288-64174512	K562	blood:	n/a	chr12:64174158-64174171 chr12:64174158-64174168 chr12:64174160-64174167 chr12:64173548-64173558 chr12:64174162-64174169
43	SP1	chr12:64173186-64174513	A549	lung:	n/a	chr12:64173551-64173560 chr12:64173589-64173601 chr12:64173591-64173600 chr12:64173550-64173560 chr12:64173591-64173600 chr12:64173589-64173601 chr12:64173590-64173599 chr12:64173550-64173559 chr12:64173579-64173589 chr12:64173549-64173561 chr12:64173982-64173995 chr12:64173550-64173560 chr12:64173551-64173560 chr12:64173546-64173560 chr12:64173579-64173589 chr12:64173549-64173561
44	MTA3	chr12:64173908-64174552	GM12878	blood:	n/a	n/a
45	MXI1	chr12:64173263-64174758	IMR90	lung:	n/a	n/a
46	POLR2A	chr12:64173145-64174585	U87	brain:	n/a	n/a
47	MYC	chr12:64173550-64174645	MCF10A-Er-Src	breast:	n/a	chr12:64174158-64174171 chr12:64174158-64174168 chr12:64174160-64174167 chr12:64174162-64174169
48	HCFC1	chr12:64173101-64174785	Hela-S3	cervix:	n/a	n/a
49	MAX	chr12:64173120-64174509	ECC-1	luminal epithelium:	n/a	chr12:64174158-64174171 chr12:64174158-64174168 chr12:64174160-64174167 chr12:64173548-64173558 chr12:64174162-64174169
50	GATA3	chr12:64173543-64174493	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:64172533..64176121-chr12:64194832..64198679,5	K562	blood:
2	chr12:64174103..64174726-chr5:180650314..180651063,2	Hela-S3	cervix:
3	chr12:64172395..64175865-chr12:64176316..64181928,12	K562	blood:
4	chr12:64172631..64179011-chr12:64187703..64190145,6	MCF-7	breast:
5	chr12:64172589..64175160-chr12:64189373..64193026,5	MCF-7	breast:
6	chr12:64173978..64177817-chr12:64182120..64184728,4	K562	blood:
7	chr12:64172802..64174995-chr12:64236940..64239856,2	MCF-7	breast:

Variant related genes	Relation type
TMEM5	TF binding region
ENSG00000249753	Chromatin interaction
ENSG00000146063	Chromatin interaction
ENSG00000118600	Chromatin interaction
ENSG00000196935	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759905	chr12:63901801-64252172	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758312	chr12:63910416-64252172	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv899171	chr12:63916682-64202233	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv430514	chr12:63939733-64183598	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv832441	chr12:64063776-64252172	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv3449572	chr12:64174108-64174892	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
9	esv3523514	chr12:64174149-64174848	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
10	esv3523515	chr12:64174149-64174848	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
11	esv3488086	chr12:64174181-64174924	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
12	esv3488097	chr12:64174181-64174924	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64172800-64174600	Active TSS	Brain Anterior Caudate	brain
2	chr12:64172800-64175200	Active TSS	K562	blood
3	chr12:64173000-64174600	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr12:64173000-64174600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:64173000-64174600	Active TSS	Brain Angular Gyrus	brain
6	chr12:64173000-64174600	Active TSS	Stomach Smooth Muscle	stomach
7	chr12:64173000-64174800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:64173000-64174800	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr12:64173000-64174800	Active TSS	GM12878-XiMat	blood
10	chr12:64173000-64174800	Active TSS	NHDF-Ad	bronchial
11	chr12:64173000-64175000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr12:64173000-64175000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:64173000-64175000	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr12:64173000-64175000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:64173200-64174600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr12:64173200-64174600	Active TSS	H1 Cell Line	embryonic stem cell
17	chr12:64173200-64174600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:64173200-64174600	Active TSS	Aorta	Aorta
19	chr12:64173200-64174600	Active TSS	Brain Substantia Nigra	brain
20	chr12:64173200-64174600	Active TSS	Colonic Mucosa	Colon
21	chr12:64173200-64174600	Active TSS	Fetal Brain Male	brain
22	chr12:64173200-64174600	Active TSS	Fetal Brain Female	brain
23	chr12:64173200-64174600	Active TSS	Fetal Intestine Large	intestine
24	chr12:64173200-64174600	Active TSS	Fetal Muscle Trunk	muscle
25	chr12:64173200-64174600	Active TSS	Fetal Muscle Leg	muscle
26	chr12:64173200-64174600	Active TSS	Psoas Muscle	Psoas
27	chr12:64173200-64174600	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr12:64173200-64174600	Active TSS	Right Ventricle	heart
29	chr12:64173200-64174600	Active TSS	Thymus	Thymus
30	chr12:64173200-64174600	Active TSS	A549	lung
31	chr12:64173200-64174600	Active TSS	HSMM	muscle
32	chr12:64173200-64174600	Active TSS	HSMMtube	muscle
33	chr12:64173200-64174600	Active TSS	NH-A	brain
34	chr12:64173200-64174800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:64173200-64174800	Active TSS	Duodenum Mucosa	Duodenum
36	chr12:64173200-64175000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:64173200-64175000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:64173200-64175000	Active TSS	NHLF	lung
39	chr12:64173200-64175200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:64173200-64175200	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr12:64173200-64175600	Active TSS	Ovary	ovary
42	chr12:64173400-64174600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:64173400-64174600	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr12:64173400-64174600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:64173400-64174600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr12:64173400-64174600	Active TSS	Fetal Thymus	thymus
47	chr12:64173400-64174600	Active TSS	Rectal Smooth Muscle	rectum
48	chr12:64173400-64174600	Active TSS	Stomach Mucosa	stomach
49	chr12:64173400-64174600	Active TSS	Hela-S3	cervix
50	chr12:64173400-64174800	Active TSS	HepG2	liver

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