Variant report

Variant	rs569543743
Chromosome Location	chr12:26111393-26111394
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:176)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:176 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:26111260-26111410	SK-N-SH_RA	brain:	n/a	n/a
2	GTF2F1	chr12:26111182-26111463	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr12:26111364-26111537	K562	blood:	n/a	n/a
4	MYC	chr12:26111358-26112164	MCF10A-Er-Src	breast:	n/a	n/a
5	ZNF143	chr12:26111130-26111853	H1-hESC	embryonic stem cell:	n/a	chr12:26111244-26111254 chr12:26111376-26111391
6	SMC3	chr12:26110849-26111757	Hela-S3	cervix:	n/a	n/a
7	HMGN3	chr12:26111256-26112411	K562	blood:	n/a	n/a
8	TCF7L2	chr12:26110958-26111641	PANC-1	pancreas:	n/a	n/a
9	SMC3	chr12:26110022-26114054	SK-N-SH	brain:	n/a	chr12:26111781-26111791
10	JUND	chr12:26111215-26111922	A549	lung:	n/a	n/a
11	CCNT2	chr12:26111238-26112215	K562	blood:	n/a	n/a
12	TCF7L2	chr12:26110930-26112368	HCT-116	colon:	n/a	n/a
13	RAD21	chr12:26110968-26111730	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr12:26111218-26111819	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr12:26110747-26111817	U87	brain:	n/a	n/a
16	PBX3	chr12:26110721-26111508	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr12:26110848-26111953	PANC-1	pancreas:	n/a	n/a
18	RAD21	chr12:26110041-26114263	SK-N-SH	brain:	n/a	chr12:26111781-26111791
19	EGR1	chr12:26111281-26111886	ECC-1	luminal epithelium:	n/a	chr12:26111779-26111792 chr12:26111662-26111676 chr12:26111645-26111659
20	CHD2	chr12:26110731-26113022	Hela-S3	cervix:	n/a	chr12:26111241-26111251
21	MAX	chr12:26110966-26111980	HepG2	liver:	n/a	n/a
22	CREB1	chr12:26111004-26111511	K562	blood:	n/a	n/a
23	UBTF	chr12:26111085-26112300	K562	blood:	n/a	n/a
24	POLR2A	chr12:26111155-26112413	ProgFib	skin:	n/a	n/a
25	TCF12	chr12:26110510-26111710	SK-N-SH	brain:	n/a	n/a
26	TAF1	chr12:26111357-26111852	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr12:26110664-26112424	HUVEC	blood vessel:	n/a	n/a
28	HCFC1	chr12:26111145-26111395	K562	blood:	n/a	n/a
29	POLR2A	chr12:26111212-26111956	A549	lung:	n/a	n/a
30	CTCF	chr12:26111360-26111510	GM12875	blood:	n/a	n/a
31	CTCF	chr12:26111360-26111510	GM12872	blood:	n/a	n/a
32	POLR2A	chr12:26111010-26112908	Hela-S3	cervix:	n/a	n/a
33	RCOR1	chr12:26111364-26111741	K562	blood:	n/a	n/a
34	SIN3AK20	chr12:26110858-26111550	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr12:26111205-26112016	A549	lung:	n/a	n/a
36	JUND	chr12:26110936-26111409	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr12:26111387-26111589	GM19240	blood:	n/a	n/a
38	E2F4	chr12:26111352-26111868	MCF10A-Er-Src	breast:	n/a	n/a
39	NFIC	chr12:26110933-26111490	ECC-1	luminal epithelium:	n/a	n/a
40	MYC	chr12:26111144-26111766	K562	blood:	n/a	n/a
41	MAX	chr12:26111041-26111574	H1-hESC	embryonic stem cell:	n/a	n/a
42	SIN3AK20	chr12:26111019-26113072	PANC-1	pancreas:	n/a	n/a
43	HA-E2F1	chr12:26111201-26112330	Hela-S3	cervix:	n/a	chr12:26111715-26111726 chr12:26111756-26111767
44	MAX	chr12:26110853-26113036	Hela-S3	cervix:	n/a	chr12:26112239-26112249 chr12:26112912-26112920
45	SMARCB1	chr12:26111073-26112790	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr12:26110826-26113301	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr12:26111373-26111558	SK-N-SH_RA	brain:	n/a	n/a
48	POLR2A	chr12:26110425-26111443	U87	brain:	n/a	n/a
49	CTCF	chr12:26111363-26111528	Spleen_OC	spleen:	n/a	n/a
50	POLR2A	chr12:26110543-26112977	HUVEC	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:26111348-26111398	HNPCEpiC	eye:	n/a
2	chr12:26111348-26111398	HEK293	kidney:	embryo
3	chr12:26111348-26111398	HCPEpiC	choroid plexus:	n/a
4	chr12:26111348-26111398	GM19239	blood:	n/a
5	chr12:26111348-26111398	HRE	kidney:	n/a
6	chr12:26111348-26111398	SKMC	muscle:	n/a
7	chr12:26111348-26111398	H1-hESC	embryonic stem cell:	embryo
8	chr12:26111348-26111398	AG04450	lung:	fetal
9	chr12:26111348-26111398	CMK	blood:	n/a
10	chr12:26111348-26111398	HPAEpiC	pulmonary alveolar:	n/a
11	chr12:26111348-26111398	GM06990	blood:	n/a
12	chr12:26111348-26111398	HCM	heart:	n/a
13	chr12:26111348-26111398	SAEC	small airway:	n/a
14	chr12:26111348-26111398	MCF-7	breast:	n/a
15	chr12:26111348-26111398	U87	brain:	n/a
16	chr12:26111348-26111398	PANC-1	pancreas:	n/a
17	chr12:26111348-26111398	ECC-1	luminal epithelium:	n/a
18	chr12:26111348-26111398	ProgFib	skin:	n/a
19	chr12:26111348-26111398	HRPEpiC	eye:	n/a
20	chr12:26111348-26111398	NB4	blood:	n/a
21	chr12:26111348-26111398	BE2_C	brain:	n/a
22	chr12:26111348-26111398	HMEC	breast:	n/a
23	chr12:26111348-26111398	HAEpiC	amniotic membrane:	n/a
24	chr12:26111348-26111398	GM12891	blood:	n/a
25	chr12:26111348-26111398	NH-A	brain:	n/a
26	chr12:26111348-26111398	Hepatocyte	liver:	n/a
27	chr12:26111348-26111398	AoSMC	blood vessel:	n/a
28	chr12:26111348-26111398	LNCaP	prostate:	n/a
29	chr12:26111348-26111398	HepG2	liver:	n/a
30	chr12:26111348-26111398	A549	lung:	n/a
31	chr12:26111348-26111398	SK-N-SH_RA	brain:	n/a
32	chr12:26111348-26111398	HCF	heart:	n/a
33	chr12:26111348-26111398	K562	blood:	n/a
34	chr12:26111348-26111398	AG10803	skin:	n/a
35	chr12:26111348-26111398	NHBE	bronchial:	n/a
36	chr12:26111348-26111398	PrEC	prostate:	n/a
37	chr12:26111348-26111398	Jurkat	blood:	n/a
38	chr12:26111348-26111398	NHDF-neo	bronchial:	n/a
39	chr12:26111348-26111398	BJ	skin:	n/a
40	chr12:26111348-26111398	PFSK-1	brain:	n/a
41	chr12:26111348-26111398	RPTEC	kidney:	n/a
42	chr12:26111348-26111398	AG09309	skin:	n/a
43	chr12:26111348-26111398	Hela-S3	cervix:	n/a
44	chr12:26111348-26111398	IMR90	lung:	fetal
45	chr12:26111348-26111398	HIPEpiC	eye:	n/a
46	chr12:26111348-26111398	HUVEC	blood vessel:	n/a
47	chr12:26111348-26111398	AG04449	skin:	fetal
48	chr12:26111348-26111398	MCF10A-Er-Src	breast:	n/a
49	chr12:26111348-26111398	HL-60	blood:	n/a
50	chr12:26111348-26111398	HCT-116	colon:	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	CpG island
RASSF8-AS1	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:117 , 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	chr12:26110600-26111400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr12:26110600-26112200	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr12:26110600-26112400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:26110600-26112600	Active TSS	Fetal Brain Female	brain
17	chr12:26110600-26112800	Active TSS	H1 Cell Line	embryonic stem cell
18	chr12:26110600-26112800	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr12:26110600-26112800	Active TSS	Brain Cingulate Gyrus	brain
20	chr12:26110600-26112800	Active TSS	Fetal Intestine Small	intestine
21	chr12:26110600-26112800	Active TSS	Fetal Stomach	stomach
22	chr12:26110600-26112800	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr12:26110600-26112800	Active TSS	HSMMtube	muscle
24	chr12:26110600-26112800	Active TSS	NH-A	brain
25	chr12:26110600-26113000	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr12:26110600-26113000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:26110600-26113000	Active TSS	Brain Substantia Nigra	brain
28	chr12:26110600-26113200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:26110600-26113200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:26110600-26113200	Active TSS	Fetal Lung	lung
31	chr12:26110600-26113200	Active TSS	Left Ventricle	heart
32	chr12:26110600-26113200	Active TSS	HSMM	muscle
33	chr12:26110600-26113400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:26110600-26113400	Active TSS	H9 Cell Line	embryonic stem cell
35	chr12:26110600-26113400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:26110600-26113400	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr12:26110600-26113400	Active TSS	Aorta	Aorta
38	chr12:26110600-26113400	Active TSS	Brain Angular Gyrus	brain
39	chr12:26110600-26113600	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr12:26110600-26113600	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr12:26110600-26113600	Active TSS	Rectal Smooth Muscle	rectum
42	chr12:26110600-26113600	Active TSS	NHDF-Ad	bronchial
43	chr12:26110600-26113800	Active TSS	Right Ventricle	heart
44	chr12:26110600-26114000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:26110600-26114000	Active TSS	Right Atrium	heart
46	chr12:26110800-26111400	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr12:26110800-26111400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr12:26110800-26111400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:26110800-26112000	Active TSS	Colonic Mucosa	Colon
50	chr12:26110800-26112000	Bivalent/Poised TSS	Thymus	Thymus

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