Variant report

Variant	rs370247893
Chromosome Location	chr12:26111179-26111180
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:132)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:132 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr12:26111130-26111853	H1-hESC	embryonic stem cell:	n/a	chr12:26111244-26111254 chr12:26111376-26111391
2	SMC3	chr12:26110849-26111757	Hela-S3	cervix:	n/a	n/a
3	TCF7L2	chr12:26110958-26111641	PANC-1	pancreas:	n/a	n/a
4	TAF1	chr12:26110836-26111194	Hela-S3	cervix:	n/a	n/a
5	SMC3	chr12:26110022-26114054	SK-N-SH	brain:	n/a	chr12:26111781-26111791
6	FOS	chr12:26110780-26111197	MCF10A-Er-Src	breast:	n/a	chr12:26110884-26110893 chr12:26110941-26110952
7	TCF7L2	chr12:26110930-26112368	HCT-116	colon:	n/a	n/a
8	RAD21	chr12:26110968-26111730	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr12:26110747-26111817	U87	brain:	n/a	n/a
10	PBX3	chr12:26110721-26111508	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr12:26110848-26111953	PANC-1	pancreas:	n/a	n/a
12	RAD21	chr12:26110041-26114263	SK-N-SH	brain:	n/a	chr12:26111781-26111791
13	CHD2	chr12:26110731-26113022	Hela-S3	cervix:	n/a	chr12:26111241-26111251
14	MAX	chr12:26110966-26111980	HepG2	liver:	n/a	n/a
15	GATA3	chr12:26110587-26111322	SK-N-SH	brain:	n/a	chr12:26110670-26110679
16	CREB1	chr12:26111004-26111511	K562	blood:	n/a	n/a
17	UBTF	chr12:26111085-26112300	K562	blood:	n/a	n/a
18	POLR2A	chr12:26111155-26112413	ProgFib	skin:	n/a	n/a
19	TCF12	chr12:26110510-26111710	SK-N-SH	brain:	n/a	n/a
20	BHLHE40	chr12:26111173-26111242	K562	blood:	n/a	n/a
21	POLR2A	chr12:26110664-26112424	HUVEC	blood vessel:	n/a	n/a
22	HCFC1	chr12:26111145-26111395	K562	blood:	n/a	n/a
23	POLR2A	chr12:26111010-26112908	Hela-S3	cervix:	n/a	n/a
24	SIN3AK20	chr12:26110858-26111550	SK-N-SH	brain:	n/a	n/a
25	JUND	chr12:26110936-26111409	H1-hESC	embryonic stem cell:	n/a	n/a
26	NFIC	chr12:26110933-26111490	ECC-1	luminal epithelium:	n/a	n/a
27	MYC	chr12:26111144-26111766	K562	blood:	n/a	n/a
28	MAX	chr12:26111041-26111574	H1-hESC	embryonic stem cell:	n/a	n/a
29	SIN3AK20	chr12:26111019-26113072	PANC-1	pancreas:	n/a	n/a
30	MAX	chr12:26110853-26113036	Hela-S3	cervix:	n/a	chr12:26112239-26112249 chr12:26112912-26112920
31	SMARCB1	chr12:26111073-26112790	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr12:26110826-26113301	HUVEC	blood vessel:	n/a	n/a
33	BACH1	chr12:26111166-26111346	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr12:26110425-26111443	U87	brain:	n/a	n/a
35	POLR2A	chr12:26110543-26112977	HUVEC	blood vessel:	n/a	n/a
36	BRCA1	chr12:26111108-26111522	Hela-S3	cervix:	n/a	n/a
37	MYC	chr12:26111101-26111258	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr12:26111131-26112338	HEK293	kidney:	n/a	n/a
39	POLR2A	chr12:26110670-26111527	SK-N-SH	brain:	n/a	n/a
40	MXI1	chr12:26110512-26114891	SK-N-SH	brain:	n/a	n/a
41	FOS	chr12:26110722-26111235	HUVEC	blood vessel:	n/a	chr12:26110884-26110893 chr12:26110941-26110952
42	MAZ	chr12:26110601-26113503	IMR90	lung:	n/a	chr12:26112239-26112249 chr12:26110615-26110625 chr12:26112912-26112920
43	POLR2A	chr12:26110804-26113064	Hela-S3	cervix:	n/a	n/a
44	FOSL2	chr12:26110657-26111329	SK-N-SH	brain:	n/a	chr12:26110884-26110893
45	MAX	chr12:26110926-26112569	A549	lung:	n/a	chr12:26112239-26112249
46	CREB1	chr12:26111109-26112471	A549	lung:	n/a	n/a
47	RAD21	chr12:26110805-26111201	SK-N-SH_RA	brain:	n/a	n/a
48	E2F6	chr12:26111177-26112304	K562	blood:	n/a	chr12:26111755-26111766
49	FOXP2	chr12:26111149-26111930	PFSK-1	brain:	n/a	n/a
50	SIN3AK20	chr12:26110814-26111291	PFSK-1	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:26111162-26111212	HRE	kidney:	n/a
2	chr12:26111162-26111212	HPAEpiC	pulmonary alveolar:	n/a
3	chr12:26111162-26111212	HIPEpiC	eye:	n/a
4	chr12:26111162-26111212	HepG2	liver:	n/a
5	chr12:26111162-26111212	SKMC	muscle:	n/a
6	chr12:26111162-26111212	NHBE	bronchial:	n/a
7	chr12:26111162-26111212	U87	brain:	n/a
8	chr12:26111162-26111212	PANC-1	pancreas:	n/a
9	chr12:26111162-26111212	HRCEpiC	kidney:	n/a
10	chr12:26111162-26111212	PFSK-1	brain:	n/a
11	chr12:26111162-26111212	AG09319	gingival:	n/a
12	chr12:26111162-26111212	AG04450	lung:	fetal
13	chr12:26111162-26111212	GM06990	blood:	n/a
14	chr12:26111162-26111212	Caco-2	colon:	n/a
15	chr12:26111162-26111212	HMEC	breast:	n/a
16	chr12:26111162-26111212	ECC-1	luminal epithelium:	n/a
17	chr12:26111162-26111212	HCF	heart:	n/a
18	chr12:26111162-26111212	HAEpiC	amniotic membrane:	n/a
19	chr12:26111162-26111212	AG10803	skin:	n/a
20	chr12:26111162-26111212	HUVEC	blood vessel:	n/a
21	chr12:26111162-26111212	K562	blood:	n/a
22	chr12:26111162-26111212	SK-N-SH_RA	brain:	n/a
23	chr12:26111162-26111212	LNCaP	prostate:	n/a
24	chr12:26111162-26111212	AG04449	skin:	fetal
25	chr12:26111162-26111212	HCPEpiC	choroid plexus:	n/a
26	chr12:26111162-26111212	HCT-116	colon:	n/a
27	chr12:26111162-26111212	SK-N-SH	brain:	n/a
28	chr12:26111162-26111212	NB4	blood:	n/a
29	chr12:26111162-26111212	ProgFib	skin:	n/a
30	chr12:26111162-26111212	HEEpiC	esophagus:	n/a
31	chr12:26111162-26111212	A549	lung:	n/a
32	chr12:26111162-26111212	Hepatocyte	liver:	n/a
33	chr12:26111162-26111212	Jurkat	blood:	n/a
34	chr12:26111162-26111212	GM12891	blood:	n/a
35	chr12:26111162-26111212	HEK293	kidney:	embryo
36	chr12:26111162-26111212	NH-A	brain:	n/a
37	chr12:26111162-26111212	CMK	blood:	n/a
38	chr12:26111162-26111212	GM12892	blood:	n/a
39	chr12:26111162-26111212	HRPEpiC	eye:	n/a
40	chr12:26111162-26111212	NT2-D1	testis:	n/a
41	chr12:26111162-26111212	Hela-S3	cervix:	n/a
42	chr12:26111162-26111212	BE2_C	brain:	n/a
43	chr12:26111162-26111212	NHDF-neo	bronchial:	n/a
44	chr12:26111162-26111212	GM19239	blood:	n/a
45	chr12:26111162-26111212	HCM	heart:	n/a
46	chr12:26111162-26111212	BJ	skin:	n/a
47	chr12:26111162-26111212	RPTEC	kidney:	n/a
48	chr12:26111162-26111212	SK-N-MC	brain:	n/a
49	chr12:26111162-26111212	HL-60	blood:	n/a
50	chr12:26111162-26111212	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26110998..26111780-chr19:1251515..1252465,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BHLHE41-2	chr12:26110952-26111511	ENSG00000246695
2	lnc-BHLHE41-2	chr12:26110952-26111496	NONHSAT027366
3	lnc-BHLHE41-2	chr12:26110952-26111408	NONHSAT027374
4	lnc-BHLHE41-2	chr12:26110952-26111426	NONHSAT027381
5	lnc-BHLHE41-2	chr12:26110952-26111426	NONHSAT027382
6	lnc-BHLHE41-2	chr12:26110952-26111483	NONHSAT027384
7	lnc-BHLHE41-2	chr12:26110952-26111408	NONHSAT140062

No data

Variant related genes	Relation type
RASSF8	TF binding region
RASSF8-AS1	TF binding region
RASSF8-AS1	CpG island
RASSF8	CpG island
ENSG00000167470	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv557802	chr12:26093161-26112158	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv17456	chr12:26108846-26114910	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv3337985	chr12:26109585-26113883	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	esv3385039	chr12:26110185-26113083	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv3323230	chr12:26110310-26112858	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv1840315	chr12:26110484-26112134	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv3366350	chr12:26110485-26113208	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	esv3405562	chr12:26110910-26113458	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26110000-26113600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:26110200-26112800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr12:26110200-26113400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:26110200-26115200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:26110400-26113200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:26110400-26113200	Active TSS	Fetal Muscle Trunk	muscle
7	chr12:26110400-26113400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr12:26110400-26113400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr12:26110400-26113400	Active TSS	Fetal Kidney	kidney
10	chr12:26110400-26113600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:26110400-26114000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr12:26110400-26114400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:26110600-26111200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:26110600-26111200	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr12:26110600-26111200	Flanking Active TSS	Liver	Liver
16	chr12:26110600-26111200	Flanking Active TSS	Fetal Muscle Leg	muscle
17	chr12:26110600-26111200	Flanking Active TSS	NHEK	skin
18	chr12:26110600-26111400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr12:26110600-26112200	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr12:26110600-26112400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:26110600-26112600	Active TSS	Fetal Brain Female	brain
22	chr12:26110600-26112800	Active TSS	H1 Cell Line	embryonic stem cell
23	chr12:26110600-26112800	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr12:26110600-26112800	Active TSS	Brain Cingulate Gyrus	brain
25	chr12:26110600-26112800	Active TSS	Fetal Intestine Small	intestine
26	chr12:26110600-26112800	Active TSS	Fetal Stomach	stomach
27	chr12:26110600-26112800	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr12:26110600-26112800	Active TSS	HSMMtube	muscle
29	chr12:26110600-26112800	Active TSS	NH-A	brain
30	chr12:26110600-26113000	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr12:26110600-26113000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:26110600-26113000	Active TSS	Brain Substantia Nigra	brain
33	chr12:26110600-26113200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:26110600-26113200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:26110600-26113200	Active TSS	Fetal Lung	lung
36	chr12:26110600-26113200	Active TSS	Left Ventricle	heart
37	chr12:26110600-26113200	Active TSS	HSMM	muscle
38	chr12:26110600-26113400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:26110600-26113400	Active TSS	H9 Cell Line	embryonic stem cell
40	chr12:26110600-26113400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:26110600-26113400	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr12:26110600-26113400	Active TSS	Aorta	Aorta
43	chr12:26110600-26113400	Active TSS	Brain Angular Gyrus	brain
44	chr12:26110600-26113600	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr12:26110600-26113600	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr12:26110600-26113600	Active TSS	Rectal Smooth Muscle	rectum
47	chr12:26110600-26113600	Active TSS	NHDF-Ad	bronchial
48	chr12:26110600-26113800	Active TSS	Right Ventricle	heart
49	chr12:26110600-26114000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:26110600-26114000	Active TSS	Right Atrium	heart

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