Variant report

Variant	rs76123009
Chromosome Location	chr1:150121546-150121547
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	CHD1	chr1:150120708-150124616	IMR90	lung:	n/a	chr1:150122211-150122221
2	POLR2A	chr1:150121015-150124391	HUVEC	blood vessel:	n/a	n/a
3	E2F6	chr1:150121473-150122411	A549	lung:	n/a	chr1:150122332-150122342 chr1:150122305-150122316 chr1:150121901-150121911 chr1:150121721-150121735 chr1:150121998-150122007
4	CEBPB	chr1:150121042-150121853	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:150120826-150122446	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:150121323-150122447	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr1:150121348-150121820	GM12891	blood:	n/a	n/a
8	MAX	chr1:150121491-150122445	A549	lung:	n/a	n/a
9	SIN3A	chr1:150121367-150122083	H1-hESC	embryonic stem cell:	n/a	n/a
10	MXI1	chr1:150120907-150124920	IMR90	lung:	n/a	n/a
11	POLR2A	chr1:150120758-150124804	GM12892	blood:	n/a	n/a
12	POLR2A	chr1:150121540-150122135	H1-hESC	embryonic stem cell:	n/a	n/a
13	RELA	chr1:150121193-150122421	GM15510	blood:	n/a	n/a
14	RUNX3	chr1:150121449-150122584	GM12878	blood:	n/a	chr1:150121708-150121723
15	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
16	POLR2A	chr1:150121538-150122996	HUVEC	blood vessel:	n/a	n/a
17	STAT5A	chr1:150121222-150121856	GM12878	blood:	n/a	chr1:150121236-150121248
18	CREB1	chr1:150121476-150122569	HepG2	liver:	n/a	n/a
19	BCLAF1	chr1:150121253-150122324	GM12878	blood:	n/a	chr1:150121896-150121909 chr1:150121994-150122007 chr1:150122206-150122219 chr1:150121999-150122008
20	NFIC	chr1:150121108-150121999	GM12878	blood:	n/a	n/a
21	POLR2A	chr1:150120703-150124835	GM12892	blood:	n/a	n/a
22	POLR2A	chr1:150120919-150124258	H1-neurons	neurons:	n/a	n/a
23	POLR2A	chr1:150120704-150122559	U87	brain:	n/a	n/a
24	MAZ	chr1:150120991-150124771	IMR90	lung:	n/a	n/a
25	ZNF263	chr1:150121497-150122490	HEK293-T-REx	kidney:	n/a	chr1:150122321-150122330
26	MTA3	chr1:150121099-150121767	GM12878	blood:	n/a	n/a
27	CHD2	chr1:150121432-150122332	GM12878	blood:	n/a	chr1:150122211-150122221
28	HA-E2F1	chr1:150121392-150122472	MCF-7	breast:	n/a	chr1:150122332-150122342 chr1:150121901-150121911 chr1:150121721-150121735 chr1:150121998-150122007
29	POLR2A	chr1:150120966-150122542	GM12891	blood:	n/a	n/a
30	POLR2A	chr1:150121056-150122431	GM12891	blood:	n/a	n/a
31	POLR2A	chr1:150121041-150122650	GM12892	blood:	n/a	n/a
32	PML	chr1:150120865-150122520	GM12878	blood:	n/a	chr1:150121206-150121214
33	HDAC2	chr1:150121206-150122524	MCF-7	breast:	n/a	n/a
34	JUN	chr1:150121183-150122574	K562	blood:	n/a	chr1:150121996-150122005 chr1:150121977-150121985 chr1:150122216-150122225 chr1:150121993-150122002 chr1:150121975-150121987 chr1:150121997-150122006
35	NRF1	chr1:150121437-150121575	GM12878	blood:	n/a	n/a
36	MAX	chr1:150121525-150122490	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr1:150121054-150124276	GM19099	blood:	n/a	n/a
38	TAF1	chr1:150121142-150122474	H1-neurons	neurons:	n/a	n/a
39	UBTF	chr1:150121536-150122522	K562	blood:	n/a	n/a
40	POLR2A	chr1:150120752-150122553	U87	brain:	n/a	n/a
41	EP300	chr1:150121533-150121965	GM12878	blood:	n/a	chr1:150121901-150121910
42	POLR2A	chr1:150121456-150122588	H1-hESC	embryonic stem cell:	n/a	n/a
43	STAT5A	chr1:150121371-150121849	GM12878	blood:	n/a	n/a
44	CHD1	chr1:150121326-150121854	GM12878	blood:	n/a	n/a
45	TAF1	chr1:150121015-150122512	H1-neurons	neurons:	n/a	n/a
46	REST	chr1:150121230-150122316	H1-neurons	neurons:	n/a	chr1:150121262-150121269 chr1:150122214-150122224 chr1:150122083-150122093 chr1:150121925-150121938 chr1:150121681-150121701
47	POLR2A	chr1:150121523-150124023	GM12878	blood:	n/a	n/a
48	MTA3	chr1:150120550-150122007	GM12878	blood:	n/a	n/a
49	POLR2A	chr1:150120821-150122446	GM12891	blood:	n/a	n/a
50	POLR2A	chr1:150121087-150122495	GM12891	blood:	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	chr1:149856777..149860438-chr1:150121197..150124713,4	K562	blood:
9	chr1:150121160..150123717-chr1:150206817..150209674,5	MCF-7	breast:
10	chr1:150038270..150039782-chr1:150120828..150123212,2	MCF-7	breast:

Variant related genes	Relation type
PLEKHO1	TF binding region
ENSG00000222222	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000169241	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000143401	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	chr1:150117200-150121600	Weak transcription	Gastric	stomach
3	chr1:150120200-150121800	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr1:150120200-150121800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:150120200-150123200	Active TSS	Stomach Smooth Muscle	stomach
6	chr1:150120200-150124000	Active TSS	GM12878-XiMat	blood
7	chr1:150120400-150121800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:150120600-150121600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
9	chr1:150120600-150121600	Flanking Active TSS	Fetal Muscle Leg	muscle
10	chr1:150120600-150121800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:150120600-150122000	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr1:150120800-150121600	Flanking Active TSS	Rectal Smooth Muscle	rectum
13	chr1:150120800-150121600	Flanking Active TSS	HUVEC	blood vessel
14	chr1:150120800-150121800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr1:150120800-150121800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr1:150120800-150121800	Flanking Active TSS	Dnd41	blood
17	chr1:150120800-150121800	Flanking Active TSS	NH-A	brain
18	chr1:150120800-150122000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr1:150120800-150123400	Active TSS	Fetal Muscle Trunk	muscle
20	chr1:150120800-150124000	Active TSS	Aorta	Aorta
21	chr1:150120800-150124400	Active TSS	Brain Anterior Caudate	brain
22	chr1:150120800-150125200	Active TSS	Brain Hippocampus Middle	brain
23	chr1:150120800-150125200	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr1:150121000-150121600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
25	chr1:150121000-150121600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
26	chr1:150121000-150121600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
27	chr1:150121000-150121600	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr1:150121000-150121600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:150121000-150121600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr1:150121000-150121600	Active TSS	Brain Germinal Matrix	brain
31	chr1:150121000-150121600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr1:150121000-150121600	Flanking Active TSS	Fetal Lung	lung
33	chr1:150121000-150121600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr1:150121000-150121600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr1:150121000-150121800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr1:150121000-150121800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:150121000-150121800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:150121000-150121800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:150121000-150121800	Active TSS	Fetal Brain Male	brain
40	chr1:150121000-150121800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr1:150121000-150121800	Flanking Active TSS	HSMM	muscle
42	chr1:150121000-150122000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr1:150121000-150122800	Active TSS	Fetal Brain Female	brain
44	chr1:150121000-150123000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
45	chr1:150121000-150123200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:150121000-150123200	Active TSS	Fetal Stomach	stomach
47	chr1:150121000-150123600	Active TSS	HSMMtube	muscle
48	chr1:150121000-150124000	Active TSS	Right Atrium	heart
49	chr1:150121000-150124200	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr1:150121000-150124200	Active TSS	Fetal Kidney	kidney

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