Variant report

Variant	rs587680782
Chromosome Location	chr1:150121864-150121865
allele	A/C
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	CHD1	chr1:150120708-150124616	IMR90	lung:	n/a	chr1:150122211-150122221
2	JUND	chr1:150121836-150122123	K562	blood:	n/a	chr1:150121996-150122005 chr1:150121977-150121985 chr1:150121993-150122002 chr1:150121975-150121987 chr1:150121997-150122006
3	YY1	chr1:150121754-150122321	GM12891	blood:	n/a	chr1:150121998-150122007 chr1:150122090-150122104 chr1:150121993-150122002
4	POLR2A	chr1:150121015-150124391	HUVEC	blood vessel:	n/a	n/a
5	MAZ	chr1:150121633-150123091	K562	blood:	n/a	n/a
6	E2F6	chr1:150121473-150122411	A549	lung:	n/a	chr1:150122332-150122342 chr1:150122305-150122316 chr1:150121901-150121911 chr1:150121721-150121735 chr1:150121998-150122007
7	TBL1XR1	chr1:150121664-150122390	GM12878	blood:	n/a	n/a
8	POLR2A	chr1:150121861-150122227	K562	blood:	n/a	n/a
9	EP300	chr1:150121830-150122135	SK-N-SH_RA	brain:	n/a	chr1:150121901-150121910 chr1:150122077-150122093
10	ZBTB7A	chr1:150121570-150123173	ECC-1	luminal epithelium:	n/a	chr1:150122209-150122216
11	E2F4	chr1:150121647-150122020	MCF10A-Er-Src	breast:	n/a	chr1:150121901-150121911 chr1:150121721-150121735 chr1:150121998-150122007
12	POLR2A	chr1:150121773-150122400	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr1:150120826-150122446	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:150121819-150122521	HEK293	kidney:	n/a	n/a
15	POLR2A	chr1:150121824-150122394	A549	lung:	n/a	n/a
16	TAF7	chr1:150121759-150122132	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr1:150121323-150122447	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr1:150121861-150122444	HepG2	liver:	n/a	n/a
19	CREB1	chr1:150121798-150122605	A549	lung:	n/a	n/a
20	MAX	chr1:150121491-150122445	A549	lung:	n/a	n/a
21	SIN3A	chr1:150121367-150122083	H1-hESC	embryonic stem cell:	n/a	n/a
22	EGR1	chr1:150121845-150122487	K562	blood:	n/a	chr1:150121993-150122003 chr1:150121992-150122007 chr1:150122224-150122233 chr1:150121993-150122006 chr1:150121998-150122008 chr1:150121993-150122006 chr1:150121997-150122007
23	MXI1	chr1:150120907-150124920	IMR90	lung:	n/a	n/a
24	POLR2A	chr1:150120758-150124804	GM12892	blood:	n/a	n/a
25	POLR2A	chr1:150121540-150122135	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr1:150121688-150124546	IMR90	lung:	n/a	n/a
27	POLR2A	chr1:150121557-150124225	GM18951	blood:	n/a	n/a
28	POLR2A	chr1:150121606-150122600	GM12878	blood:	n/a	n/a
29	RELA	chr1:150121193-150122421	GM15510	blood:	n/a	n/a
30	RCOR1	chr1:150121618-150122385	K562	blood:	n/a	n/a
31	RUNX3	chr1:150121449-150122584	GM12878	blood:	n/a	chr1:150121708-150121723
32	POLR2A	chr1:150121684-150122529	MCF-7	breast:	n/a	n/a
33	EGR1	chr1:150121297-150122894	MCF-7	breast:	n/a	chr1:150121993-150122003 chr1:150121992-150122007 chr1:150122224-150122233 chr1:150122506-150122516 chr1:150121993-150122006 chr1:150121998-150122008 chr1:150121993-150122006 chr1:150121997-150122007 chr1:150121724-150121734
34	MAX	chr1:150121799-150122412	ECC-1	luminal epithelium:	n/a	n/a
35	MAX	chr1:150121582-150122518	SK-N-SH	brain:	n/a	n/a
36	ZBTB7A	chr1:150121640-150123226	ECC-1	luminal epithelium:	n/a	chr1:150122209-150122216
37	POLR2A	chr1:150121538-150122996	HUVEC	blood vessel:	n/a	n/a
38	RAD21	chr1:150121604-150122365	IMR90	lung:	n/a	chr1:150121922-150121935 chr1:150121923-150121933 chr1:150121921-150121933
39	POLR2A	chr1:150121765-150122463	K562	blood:	n/a	n/a
40	POLR2A	chr1:150121723-150123177	K562	blood:	n/a	n/a
41	CREB1	chr1:150121476-150122569	HepG2	liver:	n/a	n/a
42	POLR2A	chr1:150121698-150122483	U87	brain:	n/a	n/a
43	BCLAF1	chr1:150121253-150122324	GM12878	blood:	n/a	chr1:150121896-150121909 chr1:150121994-150122007 chr1:150122206-150122219 chr1:150121999-150122008
44	BCL3	chr1:150121674-150122140	GM12878	blood:	n/a	chr1:150121896-150121909 chr1:150121994-150122007 chr1:150121999-150122008
45	NFIC	chr1:150121108-150121999	GM12878	blood:	n/a	n/a
46	ZNF143	chr1:150121849-150122514	GM12878	blood:	n/a	n/a
47	POLR2A	chr1:150120703-150124835	GM12892	blood:	n/a	n/a
48	MAX	chr1:150121611-150122347	GM12878	blood:	n/a	n/a
49	POLR2A	chr1:150120919-150124258	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr1:150120704-150122559	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150047834..150051741-chr1:150120632..150125901,6	MCF-7	breast:
2	chr1:150120783..150123550-chr1:150205612..150208208,2	K562	blood:
3	chr1:150120710..150123122-chr1:155106674..155108306,2	MCF-7	breast:
4	chr1:149858428..149861867-chr1:150121197..150123185,3	K562	blood:
5	chr1:150038076..150040720-chr1:150121290..150124944,3	K562	blood:
6	chr1:150063760..150067981-chr1:150120061..150123839,7	MCF-7	breast:
7	chr1:149858884..149861217-chr1:150120977..150123082,2	MCF-7	breast:
8	chr1:149855859..149860778-chr1:150121854..150124549,4	MCF-7	breast:
9	chr1:149856777..149860438-chr1:150121197..150124713,4	K562	blood:
10	chr1:150121582..150124449-chr1:150206466..150208946,2	MCF-7	breast:
11	chr1:150121553..150123075-chr6:27798165..27799927,2	MCF-7	breast:
12	chr1:150121160..150123717-chr1:150206817..150209674,5	MCF-7	breast:
13	chr1:150038270..150039782-chr1:150120828..150123212,2	MCF-7	breast:

Variant related genes	Relation type
PLEKHO1	TF binding region
ENSG00000222222	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000197914	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000169241	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000178096	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv535152	chr1:150120726-150143089	Active TSS Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv3342683	chr1:150120853-150124201	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3409123	chr1:150121478-150123676	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr1:150114800-150125200	Weak transcription	Hela-S3	cervix
2	chr1:150120200-150123200	Active TSS	Stomach Smooth Muscle	stomach
3	chr1:150120200-150124000	Active TSS	GM12878-XiMat	blood
4	chr1:150120600-150122000	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr1:150120800-150122000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr1:150120800-150123400	Active TSS	Fetal Muscle Trunk	muscle
7	chr1:150120800-150124000	Active TSS	Aorta	Aorta
8	chr1:150120800-150124400	Active TSS	Brain Anterior Caudate	brain
9	chr1:150120800-150125200	Active TSS	Brain Hippocampus Middle	brain
10	chr1:150120800-150125200	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr1:150121000-150122000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:150121000-150122800	Active TSS	Fetal Brain Female	brain
13	chr1:150121000-150123000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
14	chr1:150121000-150123200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:150121000-150123200	Active TSS	Fetal Stomach	stomach
16	chr1:150121000-150123600	Active TSS	HSMMtube	muscle
17	chr1:150121000-150124000	Active TSS	Right Atrium	heart
18	chr1:150121000-150124200	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr1:150121000-150124200	Active TSS	Fetal Kidney	kidney
20	chr1:150121000-150125000	Active TSS	Brain Angular Gyrus	brain
21	chr1:150121200-150122400	Active TSS	Colonic Mucosa	Colon
22	chr1:150121200-150123000	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr1:150121200-150123200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:150121200-150123600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:150121200-150123800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:150121200-150123800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:150121200-150123800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr1:150121200-150123800	Active TSS	Ovary	ovary
29	chr1:150121200-150124200	Active TSS	Brain Cingulate Gyrus	brain
30	chr1:150121200-150124200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:150121200-150124400	Active TSS	Psoas Muscle	Psoas
32	chr1:150121200-150124800	Active TSS	Lung	lung
33	chr1:150121400-150122000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr1:150121400-150122000	Flanking Active TSS	HMEC	breast
35	chr1:150121400-150122600	Active TSS	Placenta	Placenta
36	chr1:150121400-150123000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:150121400-150123200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:150121400-150123200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:150121400-150123200	Active TSS	Colon Smooth Muscle	Colon
40	chr1:150121400-150123200	Active TSS	Placenta Amnion	Placenta Amnion
41	chr1:150121400-150123400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:150121400-150123400	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr1:150121400-150123600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:150121400-150123800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:150121400-150123800	Active TSS	Thymus	Thymus
46	chr1:150121400-150123800	Active TSS	NHDF-Ad	bronchial
47	chr1:150121400-150124000	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr1:150121400-150124400	Active TSS	Brain Substantia Nigra	brain
49	chr1:150121400-150124600	Active TSS	Esophagus	oesophagus
50	chr1:150121400-150124600	Active TSS	Left Ventricle	heart

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