Variant report

Variant	rs200955916
Chromosome Location	chr1:155145018-155145019
allele	C/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	POLR2A	chr1:155145009-155146049	PANC-1	pancreas:	n/a	n/a
2	CTCF	chr1:155145011-155146629	A549	lung:	n/a	n/a
3	POLR2A	chr1:155144892-155146732	U87	brain:	n/a	n/a
4	POLR2A	chr1:155144879-155146055	HUVEC	blood vessel:	n/a	n/a
5	MYC	chr1:155144975-155146342	K562	blood:	n/a	chr1:155146251-155146266 chr1:155146252-155146262 chr1:155146252-155146261 chr1:155146253-155146262 chr1:155146253-155146263
6	TEAD4	chr1:155144947-155146080	K562	blood:	n/a	n/a
7	POLR2A	chr1:155144967-155146033	K562	blood:	n/a	n/a
8	CTCF	chr1:155144872-155146843	SK-N-SH	brain:	n/a	n/a
9	RCOR1	chr1:155144521-155146216	IMR90	lung:	n/a	n/a
10	MXI1	chr1:155144981-155145266	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr1:155144886-155146738	U87	brain:	n/a	n/a
12	MYC	chr1:155145001-155146292	K562	blood:	n/a	chr1:155146251-155146266 chr1:155146252-155146262 chr1:155146252-155146261 chr1:155146253-155146262 chr1:155146253-155146263
13	MAZ	chr1:155144752-155147504	IMR90	lung:	n/a	chr1:155146251-155146266 chr1:155146974-155146983 chr1:155146252-155146262 chr1:155146252-155146261 chr1:155146253-155146262 chr1:155146978-155146987 chr1:155146253-155146263
14	POLR2A	chr1:155144995-155145971	GM12892	blood:	n/a	n/a
15	POLR2A	chr1:155144504-155147249	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr1:155144994-155146516	HUVEC	blood vessel:	n/a	n/a
17	REST	chr1:155144867-155147716	H1-neurons	neurons:	n/a	chr1:155146997-155147010 chr1:155146997-155147010 chr1:155147558-155147571
18	MTA3	chr1:155144896-155146789	GM12878	blood:	n/a	n/a
19	MAX	chr1:155144757-155146888	A549	lung:	n/a	chr1:155146251-155146266 chr1:155146252-155146262 chr1:155146252-155146261 chr1:155146253-155146262 chr1:155146253-155146263
20	EGR1	chr1:155144979-155145327	K562	blood:	n/a	n/a
21	MXI1	chr1:155144639-155149713	SK-N-SH	brain:	n/a	chr1:155146252-155146261 chr1:155146254-155146263 chr1:155146972-155146987 chr1:155146974-155146989 chr1:155146863-155146872
22	POLR2A	chr1:155145006-155145973	K562	blood:	n/a	n/a
23	MAX	chr1:155144962-155146058	NB4	blood:	n/a	n/a
24	POLR2A	chr1:155145007-155146036	HepG2	liver:	n/a	n/a
25	POLR2A	chr1:155144973-155145971	IMR90	lung:	n/a	n/a
26	MAX	chr1:155144956-155146566	SK-N-SH	brain:	n/a	chr1:155146251-155146266 chr1:155146252-155146262 chr1:155146252-155146261 chr1:155146253-155146262 chr1:155146253-155146263
27	POLR2A	chr1:155145009-155147113	MCF10A-Er-Src	breast:	n/a	n/a
28	HCFC1	chr1:155144135-155146295	Hela-S3	cervix:	n/a	n/a
29	MAX	chr1:155145000-155146036	K562	blood:	n/a	n/a
30	PML	chr1:155144956-155146082	K562	blood:	n/a	n/a
31	SIN3AK20	chr1:155145015-155146022	SK-N-SH	brain:	n/a	n/a
32	MAX	chr1:155144925-155146777	A549	lung:	n/a	chr1:155146251-155146266 chr1:155146252-155146262 chr1:155146252-155146261 chr1:155146253-155146262 chr1:155146253-155146263
33	POLR2A	chr1:155144988-155145924	K562	blood:	n/a	n/a
34	MAX	chr1:155144970-155146836	MCF-7	breast:	n/a	chr1:155146251-155146266 chr1:155146252-155146262 chr1:155146252-155146261 chr1:155146253-155146262 chr1:155146253-155146263
35	POLR2A	chr1:155144895-155146094	PFSK-1	brain:	n/a	n/a
36	POLR2A	chr1:155144878-155146031	PFSK-1	brain:	n/a	n/a
37	POLR2A	chr1:155145010-155147547	H1-neurons	neurons:	n/a	n/a
38	MAX	chr1:155144940-155146912	HCT-116	colon:	n/a	chr1:155146251-155146266 chr1:155146252-155146262 chr1:155146252-155146261 chr1:155146253-155146262 chr1:155146253-155146263
39	POLR2A	chr1:155144868-155146601	SK-N-SH	brain:	n/a	n/a
40	EBF1	chr1:155145002-155145533	GM12878	blood:	n/a	n/a
41	JUN	chr1:155144875-155146733	K562	blood:	n/a	n/a
42	POLR2A	chr1:155144955-155146132	GM12878	blood:	n/a	n/a
43	TCF12	chr1:155144996-155146635	A549	lung:	n/a	chr1:155146555-155146565
44	MAX	chr1:155145017-155145309	K562	blood:	n/a	n/a
45	POLR2A	chr1:155144946-155146564	HUVEC	blood vessel:	n/a	n/a
46	MAX	chr1:155144985-155146815	ECC-1	luminal epithelium:	n/a	chr1:155146251-155146266 chr1:155146252-155146262 chr1:155146252-155146261 chr1:155146253-155146262 chr1:155146253-155146263
47	MYC	chr1:155145018-155146040	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:155102095..155105261-chr1:155144437..155147447,3	K562	blood:
2	chr1:155056284..155060443-chr1:155143066..155147437,8	MCF-7	breast:
3	chr1:155143901..155153030-chr1:155191166..155199183,23	MCF-7	breast:
4	chr1:155056491..155066482-chr1:155136760..155147519,21	K562	blood:
5	chr1:155144108..155147671-chr1:155293137..155296373,4	MCF-7	breast:
6	chr1:155050575..155052612-chr1:155144958..155146789,2	MCF-7	breast:
7	chr1:155095314..155110392-chr1:155134312..155151496,72	MCF-7	breast:
8	chr1:155056751..155059603-chr1:155143653..155146036,8	MCF-7	breast:
9	chr1:155021786..155024285-chr1:155144264..155145774,2	MCF-7	breast:
10	chr1:155055553..155060043-chr1:155139937..155145817,8	K562	blood:
11	chr1:155143848..155145847-chr1:155292739..155294361,2	K562	blood:
12	chr1:155105664..155110180-chr1:155143584..155151850,15	MCF-7	breast:
13	chr1:155107108..155109985-chr1:155144527..155147858,5	K562	blood:
14	chr1:155144509..155147724-chr1:155241916..155244574,3	MCF-7	breast:
15	chr1:155021809..155025289-chr1:155144477..155147497,3	K562	blood:
16	chr1:155094769..155105017-chr1:155135344..155151845,46	MCF-7	breast:
17	chr1:155144282..155146428-chr1:155196994..155199261,3	K562	blood:
18	chr1:155015970..155018698-chr1:155144403..155146699,2	K562	blood:

Variant related genes	Relation type
TRIM46	TF binding region
ENSG00000160753	Chromatin interaction
ENSG00000143537	Chromatin interaction
ENSG00000169241	Chromatin interaction
ENSG00000143590	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000169242	Chromatin interaction
ENSG00000232093	Chromatin interaction
ENSG00000176444	Chromatin interaction
ENSG00000225855	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
3	nsv464084	chr1:155082298-155194980	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
4	nsv547961	chr1:155082298-155194980	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
5	nsv831614	chr1:155094978-155275031	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	434 gene(s)	inside rSNPs	diseases
6	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
7	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
8	nsv470741	chr1:155115260-155230131	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
9	nsv1010146	chr1:155119096-155201064	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
10	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
11	nsv8447	chr1:155144629-155156937	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155144400-155145200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:155144400-155145200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:155144600-155145200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:155144600-155145200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr1:155144600-155145200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:155144600-155145200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr1:155144600-155145200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr1:155144600-155145200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:155144600-155145200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr1:155144600-155145200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:155144600-155145200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:155144600-155145200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:155144600-155145200	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr1:155144600-155145200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr1:155144600-155145200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr1:155144600-155145200	Flanking Active TSS	GM12878-XiMat	blood
17	chr1:155144600-155145200	Flanking Active TSS	HepG2	liver
18	chr1:155144600-155145200	Flanking Active TSS	HMEC	breast
19	chr1:155144600-155145200	Flanking Active TSS	NH-A	brain
20	chr1:155144600-155145200	Flanking Active TSS	NHEK	skin
21	chr1:155144600-155145200	Flanking Active TSS	Osteobl	bone
22	chr1:155144600-155145400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:155144600-155145400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr1:155144600-155145400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:155144600-155145400	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr1:155144600-155145400	Flanking Active TSS	Brain Germinal Matrix	brain
27	chr1:155144600-155145400	Flanking Active TSS	Fetal Brain Female	brain
28	chr1:155144600-155145400	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr1:155144600-155145400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr1:155144600-155145400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr1:155144600-155145400	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr1:155144600-155145400	Flanking Active TSS	HUVEC	blood vessel
33	chr1:155144600-155145600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:155144600-155146000	Active TSS	HSMMtube	muscle
35	chr1:155144600-155146200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:155144600-155147600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:155144800-155145200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:155144800-155145200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:155144800-155145200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr1:155144800-155145200	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr1:155144800-155145200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr1:155144800-155145200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:155144800-155145200	Flanking Active TSS	Fetal Brain Male	brain
44	chr1:155144800-155145200	Flanking Active TSS	Fetal Intestine Large	intestine
45	chr1:155144800-155145200	Flanking Active TSS	Fetal Intestine Small	intestine
46	chr1:155144800-155145200	Flanking Active TSS	Fetal Kidney	kidney
47	chr1:155144800-155145200	Flanking Active TSS	Fetal Stomach	stomach
48	chr1:155144800-155145200	Flanking Active TSS	Thymus	Thymus
49	chr1:155144800-155145200	Enhancers	Spleen	Spleen
50	chr1:155144800-155145200	Flanking Active TSS	Hela-S3	cervix

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