Variant report

Variant	rs576417688
Chromosome Location	chr12:117317346-117317347
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTBP2	chr12:117316706-117317573	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr12:117317287-117317541	H1-hESC	embryonic stem cell:	n/a	chr12:117317453-117317462
3	POLR2A	chr12:117316664-117317547	H1-neurons	neurons:	n/a	n/a
4	SMARCB1	chr12:117316356-117318213	Hela-S3	cervix:	n/a	n/a
5	HA-E2F1	chr12:117317334-117317798	Hela-S3	cervix:	n/a	n/a
6	SUZ12	chr12:117316189-117319614	NT2-D1	testis:	n/a	n/a
7	HA-E2F1	chr12:117317058-117317944	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:117317338-117317388	H1-hESC	embryonic stem cell:	embryo
2	chr12:117317338-117317388	HepG2	liver:	n/a
3	chr12:117317338-117317388	HRPEpiC	eye:	n/a
4	chr12:117317338-117317388	HEEpiC	esophagus:	n/a
5	chr12:117317338-117317388	HNPCEpiC	eye:	n/a
6	chr12:117317338-117317388	ProgFib	skin:	n/a
7	chr12:117317338-117317388	SKMC	muscle:	n/a
8	chr12:117317338-117317388	HMEC	breast:	n/a
9	chr12:117317338-117317388	A549	lung:	n/a
10	chr12:117317338-117317388	HL-60	blood:	n/a
11	chr12:117317338-117317388	PFSK-1	brain:	n/a
12	chr12:117317338-117317388	Hela-S3	cervix:	n/a
13	chr12:117317338-117317388	AG04449	skin:	fetal
14	chr12:117317338-117317388	T-47D	breast:	n/a
15	chr12:117317338-117317388	LNCaP	prostate:	n/a
16	chr12:117317338-117317388	U87	brain:	n/a
17	chr12:117317338-117317388	GM12878	blood:	n/a
18	chr12:117317338-117317388	BJ	skin:	n/a
19	chr12:117317338-117317388	HRE	kidney:	n/a
20	chr12:117317338-117317388	GM12891	blood:	n/a
21	chr12:117317338-117317388	AG09309	skin:	n/a
22	chr12:117317338-117317388	SAEC	small airway:	n/a
23	chr12:117317338-117317388	AoSMC	blood vessel:	n/a
24	chr12:117317338-117317388	Jurkat	blood:	n/a
25	chr12:117317338-117317388	PANC-1	pancreas:	n/a
26	chr12:117317338-117317388	CMK	blood:	n/a
27	chr12:117317338-117317388	PrEC	prostate:	n/a
28	chr12:117317338-117317388	NH-A	brain:	n/a
29	chr12:117317338-117317388	GM12892	blood:	n/a
30	chr12:117317338-117317388	NB4	blood:	n/a
31	chr12:117317338-117317388	AG09319	gingival:	n/a
32	chr12:117317338-117317388	HRCEpiC	kidney:	n/a
33	chr12:117317338-117317388	HEK293	kidney:	embryo
34	chr12:117317338-117317388	HCPEpiC	choroid plexus:	n/a
35	chr12:117317338-117317388	SK-N-SH	brain:	n/a
36	chr12:117317338-117317388	HCT-116	colon:	n/a
37	chr12:117317338-117317388	MCF-7	breast:	n/a
38	chr12:117317338-117317388	AG04450	lung:	fetal
39	chr12:117317338-117317388	K562	blood:	n/a
40	chr12:117317338-117317388	HIPEpiC	eye:	n/a
41	chr12:117317338-117317388	HCM	heart:	n/a
42	chr12:117317338-117317388	ECC-1	luminal epithelium:	n/a
43	chr12:117317338-117317388	ovcar-3	ovarian:	n/a
44	chr12:117317338-117317388	RPTEC	kidney:	n/a
45	chr12:117317338-117317388	NT2-D1	testis:	n/a
46	chr12:117317338-117317388	Caco-2	colon:	n/a
47	chr12:117317338-117317388	NHDF-neo	bronchial:	n/a
48	chr12:117317338-117317388	GM06990	blood:	n/a
49	chr12:117317338-117317388	MCF10A-Er-Src	breast:	n/a
50	chr12:117317338-117317388	SK-N-SH_RA	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117174783..117176988-chr12:117316113..117318785,2	MCF-7	breast:
2	chr12:117317029..117319301-chr12:117346996..117349580,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HRK-1	chr12:117316878-117317422	NONHSAT030971

No data

Variant related genes	Relation type
HRK	TF binding region
HRK	CpG island
ENSG00000111412	Chromatin interaction
ENSG00000174989	Chromatin interaction
ENSG00000135119	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3338350	chr12:117316869-117321167	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117316000-117317400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
2	chr12:117316000-117317800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr12:117316000-117320200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr12:117316200-117317400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:117316200-117317400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
6	chr12:117316200-117317400	Flanking Bivalent TSS/Enh	NHEK	skin
7	chr12:117316200-117317600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr12:117316200-117317800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr12:117316200-117318000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:117316200-117318400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:117316200-117318600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
12	chr12:117316200-117318800	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr12:117316200-117320000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr12:117316200-117320200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr12:117316200-117320400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
16	chr12:117316200-117320400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:117316400-117317400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:117316400-117317400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:117316400-117317400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
20	chr12:117316400-117317400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
21	chr12:117316400-117317400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
22	chr12:117316400-117317400	Bivalent/Poised TSS	Osteobl	bone
23	chr12:117316400-117317600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
24	chr12:117316400-117317600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:117316400-117317600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
26	chr12:117316400-117317800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:117316400-117317800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:117316400-117317800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:117316400-117317800	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr12:117316400-117317800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:117316400-117317800	Enhancers	Liver	Liver
32	chr12:117316400-117317800	Bivalent/Poised TSS	HSMM	muscle
33	chr12:117316400-117318400	Enhancers	Pancreas	Pancrea
34	chr12:117316400-117318600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:117316400-117318600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:117316400-117318600	Bivalent Enhancer	Fetal Brain Male	brain
37	chr12:117316400-117318800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:117316400-117318800	Enhancers	Gastric	stomach
39	chr12:117316400-117319000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:117316400-117319400	Bivalent Enhancer	Lung	lung
41	chr12:117316400-117320200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr12:117316600-117317400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:117316600-117317400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
44	chr12:117316600-117317400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
45	chr12:117316600-117317600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
46	chr12:117316600-117317600	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr12:117316600-117317800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:117316600-117317800	Bivalent/Poised TSS	Psoas Muscle	Psoas
49	chr12:117316600-117317800	Active TSS	Right Atrium	heart
50	chr12:117316600-117318600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain

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