Variant report

Variant	rs587650442
Chromosome Location	chr1:150121737-150121738
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	CHD1	chr1:150120708-150124616	IMR90	lung:	n/a	chr1:150122211-150122221
2	POLR2A	chr1:150121015-150124391	HUVEC	blood vessel:	n/a	n/a
3	MAZ	chr1:150121633-150123091	K562	blood:	n/a	n/a
4	E2F6	chr1:150121473-150122411	A549	lung:	n/a	chr1:150122332-150122342 chr1:150122305-150122316 chr1:150121901-150121911 chr1:150121721-150121735 chr1:150121998-150122007
5	TBL1XR1	chr1:150121664-150122390	GM12878	blood:	n/a	n/a
6	CEBPB	chr1:150121042-150121853	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:150121614-150121748	K562	blood:	n/a	n/a
8	ZBTB7A	chr1:150121570-150123173	ECC-1	luminal epithelium:	n/a	chr1:150122209-150122216
9	E2F4	chr1:150121647-150122020	MCF10A-Er-Src	breast:	n/a	chr1:150121901-150121911 chr1:150121721-150121735 chr1:150121998-150122007
10	POLR2A	chr1:150120826-150122446	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:150121323-150122447	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr1:150121348-150121820	GM12891	blood:	n/a	n/a
13	MAX	chr1:150121491-150122445	A549	lung:	n/a	n/a
14	SIN3A	chr1:150121367-150122083	H1-hESC	embryonic stem cell:	n/a	n/a
15	MXI1	chr1:150120907-150124920	IMR90	lung:	n/a	n/a
16	POLR2A	chr1:150120758-150124804	GM12892	blood:	n/a	n/a
17	POLR2A	chr1:150121540-150122135	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr1:150121688-150124546	IMR90	lung:	n/a	n/a
19	POLR2A	chr1:150121557-150124225	GM18951	blood:	n/a	n/a
20	POLR2A	chr1:150121606-150122600	GM12878	blood:	n/a	n/a
21	RELA	chr1:150121193-150122421	GM15510	blood:	n/a	n/a
22	STAT3	chr1:150121630-150121797	MCF10A-Er-Src	breast:	n/a	n/a
23	RCOR1	chr1:150121618-150122385	K562	blood:	n/a	n/a
24	RUNX3	chr1:150121449-150122584	GM12878	blood:	n/a	chr1:150121708-150121723
25	POLR2A	chr1:150121684-150122529	MCF-7	breast:	n/a	n/a
26	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
27	MAX	chr1:150121582-150122518	SK-N-SH	brain:	n/a	n/a
28	ZBTB7A	chr1:150121640-150123226	ECC-1	luminal epithelium:	n/a	chr1:150122209-150122216
29	POLR2A	chr1:150121538-150122996	HUVEC	blood vessel:	n/a	n/a
30	RAD21	chr1:150121604-150122365	IMR90	lung:	n/a	chr1:150121922-150121935 chr1:150121923-150121933 chr1:150121921-150121933
31	POLR2A	chr1:150121723-150123177	K562	blood:	n/a	n/a
32	STAT5A	chr1:150121222-150121856	GM12878	blood:	n/a	chr1:150121236-150121248
33	CREB1	chr1:150121476-150122569	HepG2	liver:	n/a	n/a
34	POLR2A	chr1:150121698-150122483	U87	brain:	n/a	n/a
35	BCLAF1	chr1:150121253-150122324	GM12878	blood:	n/a	chr1:150121896-150121909 chr1:150121994-150122007 chr1:150122206-150122219 chr1:150121999-150122008
36	BCL3	chr1:150121674-150122140	GM12878	blood:	n/a	chr1:150121896-150121909 chr1:150121994-150122007 chr1:150121999-150122008
37	NFIC	chr1:150121108-150121999	GM12878	blood:	n/a	n/a
38	POLR2A	chr1:150120703-150124835	GM12892	blood:	n/a	n/a
39	MAX	chr1:150121611-150122347	GM12878	blood:	n/a	n/a
40	POLR2A	chr1:150120919-150124258	H1-neurons	neurons:	n/a	n/a
41	POLR2A	chr1:150120704-150122559	U87	brain:	n/a	n/a
42	MAZ	chr1:150120991-150124771	IMR90	lung:	n/a	n/a
43	ZBTB7A	chr1:150121582-150123097	K562	blood:	n/a	chr1:150122209-150122216
44	FOSL2	chr1:150121680-150122304	SK-N-SH	brain:	n/a	chr1:150121996-150122005 chr1:150121977-150121985 chr1:150122216-150122225 chr1:150121993-150122002 chr1:150121975-150121987 chr1:150121997-150122006
45	ZNF263	chr1:150121497-150122490	HEK293-T-REx	kidney:	n/a	chr1:150122321-150122330
46	E2F6	chr1:150121632-150122511	K562	blood:	n/a	chr1:150122332-150122342 chr1:150122305-150122316 chr1:150121901-150121911 chr1:150121721-150121735 chr1:150121998-150122007
47	MTA3	chr1:150121099-150121767	GM12878	blood:	n/a	n/a
48	CHD2	chr1:150121432-150122332	GM12878	blood:	n/a	chr1:150122211-150122221
49	CHD2	chr1:150121694-150121789	H1-hESC	embryonic stem cell:	n/a	n/a
50	HA-E2F1	chr1:150121392-150122472	MCF-7	breast:	n/a	chr1:150122332-150122342 chr1:150121901-150121911 chr1:150121721-150121735 chr1:150121998-150122007

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:150121727-150121777	SKMC	muscle:	n/a
2	chr1:150121727-150121777	AG10803	skin:	n/a
3	chr1:150121725-150121775	NHBE	bronchial:	n/a
4	chr1:150121727-150121777	PANC-1	pancreas:	n/a
5	chr1:150121727-150121777	Caco-2	colon:	n/a
6	chr1:150121727-150121777	HCT-116	colon:	n/a
7	chr1:150121725-150121775	GM12878	blood:	n/a
8	chr1:150121727-150121777	HL-60	blood:	n/a
9	chr1:150121727-150121777	IMR90	lung:	fetal
10	chr1:150121727-150121777	AG04449	skin:	fetal
11	chr1:150121725-150121775	HCF	heart:	n/a
12	chr1:150121725-150121775	Jurkat	blood:	n/a
13	chr1:150121727-150121777	Jurkat	blood:	n/a
14	chr1:150121727-150121777	HRCEpiC	kidney:	n/a
15	chr1:150121725-150121775	HEEpiC	esophagus:	n/a
16	chr1:150121725-150121775	GM06990	blood:	n/a
17	chr1:150121725-150121775	SK-N-MC	brain:	n/a
18	chr1:150121727-150121777	BJ	skin:	n/a
19	chr1:150121727-150121777	H1-hESC	embryonic stem cell:	embryo
20	chr1:150121725-150121775	BE2_C	brain:	n/a
21	chr1:150121725-150121775	Caco-2	colon:	n/a
22	chr1:150121725-150121775	HAEpiC	amniotic membrane:	n/a
23	chr1:150121725-150121775	HCM	heart:	n/a
24	chr1:150121727-150121777	AG04450	lung:	fetal
25	chr1:150121727-150121777	U87	brain:	n/a
26	chr1:150121725-150121775	SAEC	small airway:	n/a
27	chr1:150121725-150121775	PANC-1	pancreas:	n/a
28	chr1:150121725-150121775	AG04450	lung:	fetal
29	chr1:150121725-150121775	GM19239	blood:	n/a
30	chr1:150121725-150121775	SKMC	muscle:	n/a
31	chr1:150121725-150121775	HCT-116	colon:	n/a
32	chr1:150121725-150121775	CMK	blood:	n/a
33	chr1:150121725-150121775	U87	brain:	n/a
34	chr1:150121727-150121777	NB4	blood:	n/a
35	chr1:150121725-150121775	NH-A	brain:	n/a
36	chr1:150121725-150121775	HMEC	breast:	n/a
37	chr1:150121725-150121775	MCF-7	breast:	n/a
38	chr1:150121725-150121775	AG04449	skin:	fetal
39	chr1:150121727-150121777	SAEC	small airway:	n/a
40	chr1:150121727-150121777	AoSMC	blood vessel:	n/a
41	chr1:150121727-150121777	HRPEpiC	eye:	n/a
42	chr1:150121725-150121775	ProgFib	skin:	n/a
43	chr1:150121727-150121777	GM06990	blood:	n/a
44	chr1:150121727-150121777	HNPCEpiC	eye:	n/a
45	chr1:150121725-150121775	HNPCEpiC	eye:	n/a
46	chr1:150121725-150121775	PrEC	prostate:	n/a
47	chr1:150121725-150121775	GM12892	blood:	n/a
48	chr1:150121725-150121775	HL-60	blood:	n/a
49	chr1:150121725-150121775	NB4	blood:	n/a
50	chr1:150121727-150121777	NHBE	bronchial:	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	chr1:149856777..149860438-chr1:150121197..150124713,4	K562	blood:
9	chr1:150121582..150124449-chr1:150206466..150208946,2	MCF-7	breast:
10	chr1:150121553..150123075-chr6:27798165..27799927,2	MCF-7	breast:
11	chr1:150121160..150123717-chr1:150206817..150209674,5	MCF-7	breast:
12	chr1:150038270..150039782-chr1:150120828..150123212,2	MCF-7	breast:

Variant related genes	Relation type
PLEKHO1	TF binding region
PLEKHO1	CpG island
ENSG00000184678	Chromatin interaction
ENSG00000197914	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000169241	Chromatin interaction
ENSG00000222222	Chromatin interaction
ENSG00000184270	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:127 , 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	chr1:150120200-150121800	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr1:150120200-150121800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:150120200-150123200	Active TSS	Stomach Smooth Muscle	stomach
5	chr1:150120200-150124000	Active TSS	GM12878-XiMat	blood
6	chr1:150120400-150121800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:150120600-150121800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:150120600-150122000	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr1:150120800-150121800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr1:150120800-150121800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr1:150120800-150121800	Flanking Active TSS	Dnd41	blood
12	chr1:150120800-150121800	Flanking Active TSS	NH-A	brain
13	chr1:150120800-150122000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr1:150120800-150123400	Active TSS	Fetal Muscle Trunk	muscle
15	chr1:150120800-150124000	Active TSS	Aorta	Aorta
16	chr1:150120800-150124400	Active TSS	Brain Anterior Caudate	brain
17	chr1:150120800-150125200	Active TSS	Brain Hippocampus Middle	brain
18	chr1:150120800-150125200	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr1:150121000-150121800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr1:150121000-150121800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:150121000-150121800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:150121000-150121800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:150121000-150121800	Active TSS	Fetal Brain Male	brain
24	chr1:150121000-150121800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr1:150121000-150121800	Flanking Active TSS	HSMM	muscle
26	chr1:150121000-150122000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr1:150121000-150122800	Active TSS	Fetal Brain Female	brain
28	chr1:150121000-150123000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
29	chr1:150121000-150123200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:150121000-150123200	Active TSS	Fetal Stomach	stomach
31	chr1:150121000-150123600	Active TSS	HSMMtube	muscle
32	chr1:150121000-150124000	Active TSS	Right Atrium	heart
33	chr1:150121000-150124200	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr1:150121000-150124200	Active TSS	Fetal Kidney	kidney
35	chr1:150121000-150125000	Active TSS	Brain Angular Gyrus	brain
36	chr1:150121200-150121800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
37	chr1:150121200-150121800	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr1:150121200-150121800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr1:150121200-150121800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr1:150121200-150121800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:150121200-150121800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr1:150121200-150121800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:150121200-150121800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:150121200-150121800	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr1:150121200-150121800	Flanking Active TSS	Liver	Liver
46	chr1:150121200-150121800	Active TSS	Fetal Heart	heart
47	chr1:150121200-150121800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
48	chr1:150121200-150121800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
49	chr1:150121200-150121800	Flanking Active TSS	HepG2	liver
50	chr1:150121200-150121800	Flanking Active TSS	Osteobl	bone

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