Variant report

Variant	rs186895692
Chromosome Location	chr1:151694240-151694241
allele	C/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	CTCF	chr1:151694153-151694273	SK-N-SH_RA	brain:	n/a	n/a
2	MXI1	chr1:151692377-151694954	SK-N-SH	brain:	n/a	n/a
3	YY1	chr1:151693870-151694254	SK-N-SH_RA	brain:	n/a	chr1:151694224-151694235
4	CTCF	chr1:151694068-151694303	A549	lung:	n/a	n/a
5	CTCF	chr1:151694163-151694349	A549	lung:	n/a	n/a
6	YY1	chr1:151693852-151694410	SK-N-SH	brain:	n/a	chr1:151694224-151694235
7	YY1	chr1:151693868-151694259	HepG2	liver:	n/a	chr1:151694224-151694235
8	CTCF	chr1:151694220-151694370	HFF-Myc	foreskin:	n/a	n/a
9	CTCF	chr1:151694200-151694350	HPAF	blood vessel:	n/a	n/a
10	SIN3A	chr1:151693881-151694471	H1-hESC	embryonic stem cell:	n/a	n/a
11	YY1	chr1:151693882-151694242	GM12878	blood:	n/a	chr1:151694224-151694235
12	RAD21	chr1:151694047-151694336	A549	lung:	n/a	n/a
13	POLR2A	chr1:151693851-151694275	H1-neurons	neurons:	n/a	n/a
14	CTCF	chr1:151694160-151694310	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr1:151694200-151694350	HCT-116	colon:	n/a	n/a
16	SIN3AK20	chr1:151693934-151694407	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr1:151694199-151694338	Fibrobl	skin:	n/a	n/a
18	CTCF	chr1:151694200-151694350	A549	lung:	n/a	n/a
19	YY1	chr1:151693864-151694392	SK-N-SH	brain:	n/a	chr1:151694224-151694235
20	CTCF	chr1:151694180-151694330	SK-N-SH_RA	brain:	n/a	n/a
21	RAD21	chr1:151694085-151694332	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr1:151694240-151694390	HFF-Myc	foreskin:	n/a	n/a
23	CTCF	chr1:151694138-151694330	SK-N-SH_RA	brain:	n/a	n/a
24	RAD21	chr1:151693966-151694383	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr1:151694100-151694250	HCT-116	colon:	n/a	n/a
26	RAD21	chr1:151694122-151694294	A549	lung:	n/a	n/a
27	CTCF	chr1:151694160-151694310	HFF	foreskin:	n/a	n/a
28	RAD21	chr1:151694039-151694373	A549	lung:	n/a	n/a
29	YY1	chr1:151693904-151694411	H1-hESC	embryonic stem cell:	n/a	chr1:151694224-151694235
30	GATA2	chr1:151694055-151694362	SH-SY5Y	brain:	n/a	n/a
31	CTCF	chr1:151694160-151694310	A549	lung:	n/a	n/a
32	CTCF	chr1:151694240-151694390	RPTEC	kidney:	n/a	n/a
33	CTCF	chr1:151694120-151694270	GM12875	blood:	n/a	n/a
34	CTCF	chr1:151694200-151694350	SK-N-SH_RA	brain:	n/a	n/a
35	YY1	chr1:151693954-151694286	H1-hESC	embryonic stem cell:	n/a	chr1:151694224-151694235
36	CTCF	chr1:151694149-151694334	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:151693523..151696845-chr1:151699758..151701957,3	MCF-7	breast:
2	chr1:151685651..151688876-chr1:151692359..151694505,3	MCF-7	breast:
3	chr1:151430404..151432335-chr1:151692913..151695013,2	MCF-7	breast:

Variant related genes	Relation type
CELF3	TF binding region
RIIAD1	TF binding region
ENSG00000159409	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000178796	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3437612	chr1:151693528-151694776	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151692600-151694600	Enhancers	Sigmoid Colon	Sigmoid Colon
2	chr1:151692600-151694600	Enhancers	Small Intestine	intestine
3	chr1:151692800-151694400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:151693000-151694400	Active TSS	Aorta	Aorta
5	chr1:151693000-151694400	Enhancers	Pancreas	Pancrea
6	chr1:151693000-151694600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:151693000-151694600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:151693000-151694600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr1:151693200-151694400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:151693200-151694400	Active TSS	NHDF-Ad	bronchial
11	chr1:151693200-151694600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr1:151693200-151694800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:151693400-151694400	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr1:151693400-151694400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:151693400-151694600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr1:151693600-151694400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr1:151693600-151694400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:151693600-151694600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr1:151693600-151694600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr1:151693600-151694600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
21	chr1:151693800-151694400	Enhancers	Fetal Brain Male	brain
22	chr1:151693800-151694400	Active TSS	A549	lung
23	chr1:151693800-151694400	Active TSS	HSMMtube	muscle
24	chr1:151693800-151694600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
25	chr1:151693800-151694600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr1:151693800-151694600	Enhancers	Fetal Heart	heart
27	chr1:151693800-151694600	Enhancers	Stomach Mucosa	stomach
28	chr1:151693800-151695000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr1:151694000-151694400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
30	chr1:151694000-151694400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr1:151694000-151694400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:151694000-151694400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:151694000-151694400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:151694000-151694400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:151694000-151694400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:151694000-151694400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:151694000-151694400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:151694000-151694400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
39	chr1:151694000-151694400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:151694000-151694400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr1:151694000-151694400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
42	chr1:151694000-151694400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr1:151694000-151694400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:151694000-151694400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:151694000-151694400	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr1:151694000-151694400	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr1:151694000-151694400	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr1:151694000-151694400	Flanking Active TSS	Esophagus	oesophagus
49	chr1:151694000-151694400	Flanking Active TSS	Placenta	Placenta
50	chr1:151694000-151694400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach

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