Variant report

Variant	rs192842625
Chromosome Location	chr1:166136031-166136032
allele	G/T
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	TBL1XR1	chr1:166135886-166136696	GM12878	blood:	n/a	n/a
2	MAX	chr1:166135835-166136581	HepG2	liver:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279
3	CTCF	chr1:166135940-166136090	GM12871	blood:	n/a	n/a
4	CTCF	chr1:166135967-166136060	GM10266	blood:	n/a	n/a
5	CTCF	chr1:166135900-166136050	HBMEC	blood vessel:	n/a	n/a
6	TCF3	chr1:166135988-166136279	GM12878	blood:	n/a	n/a
7	EGR1	chr1:166135924-166136050	GM12878	blood:	n/a	chr1:166135949-166135963
8	ZBTB7A	chr1:166135769-166136270	K562	blood:	n/a	n/a
9	CTCF	chr1:166135920-166136070	GM12875	blood:	n/a	n/a
10	RAD21	chr1:166135879-166136070	K562	blood:	n/a	n/a
11	MAX	chr1:166135665-166136629	K562	blood:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166135699-166135709 chr1:166136269-166136279 chr1:166135744-166135754 chr1:166135691-166135700
12	CTCF	chr1:166135972-166136097	Fibrobl	skin:	n/a	n/a
13	POLR2A	chr1:166135446-166136699	GM18951	blood:	n/a	n/a
14	CTCF	chr1:166135950-166136074	GM19240	blood:	n/a	n/a
15	ELF1	chr1:166135882-166136670	GM12878	blood:	n/a	chr1:166136084-166136096 chr1:166136344-166136356
16	REST	chr1:166135989-166136788	HL-60	blood:	n/a	chr1:166136445-166136465 chr1:166136004-166136017 chr1:166136445-166136454
17	MAX	chr1:166135901-166136051	K562	blood:	n/a	n/a
18	YY1	chr1:166135835-166136386	GM12892	blood:	n/a	chr1:166136083-166136097 chr1:166135986-166135997 chr1:166136083-166136094 chr1:166136016-166136027
19	YY1	chr1:166135894-166136342	K562	blood:	n/a	chr1:166136083-166136097 chr1:166135986-166135997 chr1:166136083-166136094 chr1:166136016-166136027
20	POLR2A	chr1:166134906-166136215	H1-neurons	neurons:	n/a	n/a
21	E2F6	chr1:166135566-166136593	K562	blood:	n/a	chr1:166136086-166136096 chr1:166135698-166135707 chr1:166136147-166136157
22	MAX	chr1:166135925-166136628	HCT-116	colon:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279
23	MYC	chr1:166135980-166136418	MCF-7	breast:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279
24	YY1	chr1:166135891-166136467	HepG2	liver:	n/a	chr1:166136083-166136097 chr1:166135986-166135997 chr1:166136083-166136094 chr1:166136016-166136027
25	MYC	chr1:166135927-166136511	K562	blood:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279
26	CTCF	chr1:166135907-166136654	K562	blood:	n/a	chr1:166136150-166136163 chr1:166136412-166136425
27	CTCF	chr1:166135924-166136065	HepG2	liver:	n/a	n/a
28	CTCF	chr1:166135972-166136060	MCF-7	breast:	n/a	n/a
29	CTBP2	chr1:166134242-166136250	H1-hESC	embryonic stem cell:	n/a	n/a
30	EGR1	chr1:166135847-166136454	K562	blood:	n/a	chr1:166136269-166136279 chr1:166136268-166136278 chr1:166136380-166136393 chr1:166136291-166136305 chr1:166135949-166135963
31	MAX	chr1:166135854-166136587	H1-hESC	embryonic stem cell:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279
32	CTCF	chr1:166135988-166136042	K562	blood:	n/a	n/a
33	SP1	chr1:166136021-166136558	A549	lung:	n/a	chr1:166136351-166136360 chr1:166136089-166136101 chr1:166136385-166136395 chr1:166136089-166136101 chr1:166136320-166136332 chr1:166136352-166136361 chr1:166136091-166136100 chr1:166136347-166136356 chr1:166136322-166136331 chr1:166136350-166136362 chr1:166136385-166136394 chr1:166136090-166136104 chr1:166136272-166136281 chr1:166136350-166136362 chr1:166136090-166136099 chr1:166136352-166136361 chr1:166136090-166136099 chr1:166136381-166136395
34	CTCF	chr1:166135818-166136174	K562	blood:	n/a	chr1:166136150-166136163
35	CTCF	chr1:166135900-166136050	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr1:166135995-166136037	NHEK	skin:	n/a	n/a
37	CTCF	chr1:166135960-166136110	SK-N-SH_RA	brain:	n/a	n/a
38	RCOR1	chr1:166135969-166136607	K562	blood:	n/a	n/a
39	CTCF	chr1:166135960-166136110	HMF	breast:	n/a	n/a
40	NFIC	chr1:166135984-166136488	ECC-1	luminal epithelium:	n/a	n/a
41	CTCF	chr1:166135955-166136081	GM19239	blood:	n/a	n/a
42	SIN3A	chr1:166135891-166136659	GM12878	blood:	n/a	chr1:166136445-166136458
43	CTCF	chr1:166135811-166136215	K562	blood:	n/a	chr1:166136150-166136163
44	MAX	chr1:166135789-166136652	A549	lung:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279
45	UBTF	chr1:166135871-166136614	K562	blood:	n/a	n/a
46	CTCFL	chr1:166135908-166136071	K562	blood:	n/a	n/a
47	MAZ	chr1:166135823-166136654	K562	blood:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279
48	CTCF	chr1:166135940-166136090	GM12868	blood:	n/a	n/a
49	CTCF	chr1:166135965-166136085	GM13977	blood:	n/a	n/a
50	UBTF	chr1:166135892-166136238	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:54411116..54412005-chr1:166135690..166136342,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000230898	TF binding region
FAM78B	TF binding region
ENSG00000081870	Chromatin interaction
ENSG00000116212	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3332610	chr1:166111288-166282689	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	esv3356306	chr1:166134753-166137301	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3380611	chr1:166135003-166137251	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3328889	chr1:166135153-166137701	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166133800-166136200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:166133800-166136600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr1:166134000-166136600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr1:166134000-166136600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr1:166134000-166136600	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr1:166134000-166136600	Active TSS	Brain Angular Gyrus	brain
7	chr1:166134000-166136600	Active TSS	Brain Anterior Caudate	brain
8	chr1:166134000-166136600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:166134000-166137000	Active TSS	Psoas Muscle	Psoas
10	chr1:166134200-166137000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:166134400-166136600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:166134400-166136800	Active TSS	Aorta	Aorta
13	chr1:166134400-166136800	Active TSS	Colon Smooth Muscle	Colon
14	chr1:166134400-166137000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr1:166134400-166137000	Active TSS	Left Ventricle	heart
16	chr1:166135000-166136800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr1:166135200-166136200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:166135200-166136600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr1:166135200-166136600	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr1:166135200-166136600	Bivalent/Poised TSS	HepG2	liver
21	chr1:166135200-166136600	Bivalent/Poised TSS	NHLF	lung
22	chr1:166135200-166136800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:166135200-166136800	Bivalent/Poised TSS	Thymus	Thymus
24	chr1:166135400-166136200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:166135400-166136400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:166135400-166136400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:166135400-166136400	Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr1:166135400-166136400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr1:166135400-166136400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:166135400-166136400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:166135400-166136400	Active TSS	Duodenum Mucosa	Duodenum
32	chr1:166135400-166136400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
33	chr1:166135400-166136600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
34	chr1:166135400-166136600	Active TSS	H9 Cell Line	embryonic stem cell
35	chr1:166135400-166136600	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr1:166135400-166136600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:166135400-166136600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr1:166135400-166136600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:166135400-166136600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
40	chr1:166135400-166136600	Active TSS	Brain Hippocampus Middle	brain
41	chr1:166135400-166136600	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr1:166135400-166136600	Active TSS	Brain Substantia Nigra	brain
43	chr1:166135400-166136600	Active TSS	Fetal Brain Female	brain
44	chr1:166135400-166136600	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr1:166135400-166136600	Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr1:166135400-166136600	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr1:166135400-166136600	Active TSS	GM12878-XiMat	blood
48	chr1:166135400-166136600	Active TSS	HSMMtube	muscle
49	chr1:166135400-166136800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr1:166135400-166136800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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