Variant report

Variant	rs587759772
Chromosome Location	chr1:150121298-150121299
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	POLR2A	chr1:150121015-150124391	HUVEC	blood vessel:	n/a	n/a
3	CEBPB	chr1:150121042-150121853	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:150120826-150122446	GM12878	blood:	n/a	n/a
5	MXI1	chr1:150120907-150124920	IMR90	lung:	n/a	n/a
6	POLR2A	chr1:150120758-150124804	GM12892	blood:	n/a	n/a
7	RELA	chr1:150121193-150122421	GM15510	blood:	n/a	n/a
8	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
9	STAT5A	chr1:150121222-150121856	GM12878	blood:	n/a	chr1:150121236-150121248
10	BCLAF1	chr1:150121253-150122324	GM12878	blood:	n/a	chr1:150121896-150121909 chr1:150121994-150122007 chr1:150122206-150122219 chr1:150121999-150122008
11	NFIC	chr1:150121108-150121999	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:150120703-150124835	GM12892	blood:	n/a	n/a
13	POLR2A	chr1:150120919-150124258	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr1:150120704-150122559	U87	brain:	n/a	n/a
15	MAZ	chr1:150120991-150124771	IMR90	lung:	n/a	n/a
16	MTA3	chr1:150121099-150121767	GM12878	blood:	n/a	n/a
17	POLR2A	chr1:150120966-150122542	GM12891	blood:	n/a	n/a
18	POLR2A	chr1:150121056-150122431	GM12891	blood:	n/a	n/a
19	POLR2A	chr1:150121041-150122650	GM12892	blood:	n/a	n/a
20	PML	chr1:150120865-150122520	GM12878	blood:	n/a	chr1:150121206-150121214
21	HDAC2	chr1:150121206-150122524	MCF-7	breast:	n/a	n/a
22	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
23	POLR2A	chr1:150121054-150124276	GM19099	blood:	n/a	n/a
24	TAF1	chr1:150121142-150122474	H1-neurons	neurons:	n/a	n/a
25	POLR2A	chr1:150120752-150122553	U87	brain:	n/a	n/a
26	TAF1	chr1:150121015-150122512	H1-neurons	neurons:	n/a	n/a
27	REST	chr1:150121230-150122316	H1-neurons	neurons:	n/a	chr1:150121262-150121269 chr1:150122214-150122224 chr1:150122083-150122093 chr1:150121925-150121938 chr1:150121681-150121701
28	MTA3	chr1:150120550-150122007	GM12878	blood:	n/a	n/a
29	POLR2A	chr1:150120821-150122446	GM12891	blood:	n/a	n/a
30	POLR2A	chr1:150121087-150122495	GM12891	blood:	n/a	n/a
31	REST	chr1:150120520-150124319	H1-neurons	neurons:	n/a	chr1:150123686-150123699 chr1:150123683-150123696 chr1:150122337-150122350 chr1:150121262-150121269 chr1:150122214-150122224 chr1:150122083-150122093 chr1:150121925-150121938 chr1:150121681-150121701
32	POLR2A	chr1:150120896-150122561	GM12878	blood:	n/a	n/a
33	POLR2A	chr1:150120804-150123844	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr1:150121064-150123691	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr1:150121289-150122435	GM12892	blood:	n/a	n/a
36	POLR2A	chr1:150121131-150121329	IMR90	lung:	n/a	n/a
37	POLR2A	chr1:150120563-150124835	GM12878	blood:	n/a	n/a
38	MAX	chr1:150121238-150122519	MCF-7	breast:	n/a	n/a
39	RUNX3	chr1:150121018-150122279	GM12878	blood:	n/a	chr1:150121708-150121723
40	POLR2A	chr1:150121018-150124678	GM18505	blood:	n/a	n/a
41	BCLAF1	chr1:150120699-150122572	GM12878	blood:	n/a	chr1:150122497-150122510 chr1:150122500-150122513 chr1:150121896-150121909 chr1:150122495-150122508 chr1:150121994-150122007 chr1:150122206-150122219 chr1:150122329-150122338 chr1:150121999-150122008 chr1:150122543-150122556 chr1:150122545-150122554 chr1:150122503-150122512

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
ENSG00000136631	Chromatin interaction
ENSG00000169241	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000222222	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000178096	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150040400-150121400	Weak transcription	Pancreas	Pancrea
2	chr1:150108000-150121400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:150108800-150121400	Weak transcription	Brain Substantia Nigra	brain
4	chr1:150114600-150121400	Weak transcription	Small Intestine	intestine
5	chr1:150114800-150125200	Weak transcription	Hela-S3	cervix
6	chr1:150117200-150121400	Weak transcription	Spleen	Spleen
7	chr1:150117200-150121600	Weak transcription	Gastric	stomach
8	chr1:150119600-150121400	Weak transcription	K562	blood
9	chr1:150120200-150121800	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr1:150120200-150121800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:150120200-150123200	Active TSS	Stomach Smooth Muscle	stomach
12	chr1:150120200-150124000	Active TSS	GM12878-XiMat	blood
13	chr1:150120400-150121800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:150120600-150121400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:150120600-150121600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr1:150120600-150121600	Flanking Active TSS	Fetal Muscle Leg	muscle
17	chr1:150120600-150121800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:150120600-150122000	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr1:150120800-150121400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:150120800-150121400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr1:150120800-150121600	Flanking Active TSS	Rectal Smooth Muscle	rectum
22	chr1:150120800-150121600	Flanking Active TSS	HUVEC	blood vessel
23	chr1:150120800-150121800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr1:150120800-150121800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr1:150120800-150121800	Flanking Active TSS	Dnd41	blood
26	chr1:150120800-150121800	Flanking Active TSS	NH-A	brain
27	chr1:150120800-150122000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr1:150120800-150123400	Active TSS	Fetal Muscle Trunk	muscle
29	chr1:150120800-150124000	Active TSS	Aorta	Aorta
30	chr1:150120800-150124400	Active TSS	Brain Anterior Caudate	brain
31	chr1:150120800-150125200	Active TSS	Brain Hippocampus Middle	brain
32	chr1:150120800-150125200	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr1:150121000-150121400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:150121000-150121400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:150121000-150121400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
36	chr1:150121000-150121400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr1:150121000-150121400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr1:150121000-150121400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:150121000-150121400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
40	chr1:150121000-150121400	Flanking Active TSS	Right Ventricle	heart
41	chr1:150121000-150121600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
42	chr1:150121000-150121600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
43	chr1:150121000-150121600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
44	chr1:150121000-150121600	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr1:150121000-150121600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:150121000-150121600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr1:150121000-150121600	Active TSS	Brain Germinal Matrix	brain
48	chr1:150121000-150121600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr1:150121000-150121600	Flanking Active TSS	Fetal Lung	lung
50	chr1:150121000-150121600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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