Variant report

Variant	rs72954008
Chromosome Location	chr1:85158837-85158838
allele	A/G
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	HCFC1	chr1:85158788-85158927	K562	blood:	n/a	n/a
2	JUN	chr1:85158753-85158860	K562	blood:	n/a	n/a
3	STAT3	chr1:85158823-85158952	GM12878	blood:	n/a	n/a
4	JUND	chr1:85158744-85158904	K562	blood:	n/a	n/a
5	CUX1	chr1:85158757-85159068	K562	blood:	n/a	n/a
6	IRF1	chr1:85157074-85159143	K562	blood:	n/a	chr1:85157134-85157147 chr1:85157134-85157147 chr1:85158782-85158803 chr1:85157134-85157147
7	RUNX3	chr1:85158619-85159069	GM12878	blood:	n/a	n/a
8	GATA1	chr1:85158337-85159195	PBDE	blood:	n/a	n/a
9	IRF1	chr1:85158602-85158989	K562	blood:	n/a	chr1:85158782-85158803
10	TAF1	chr1:85158633-85158967	GM12878	blood:	n/a	n/a
11	MYC	chr1:85158692-85159075	K562	blood:	n/a	n/a
12	RCOR1	chr1:85158749-85158955	K562	blood:	n/a	n/a
13	MAFK	chr1:85158641-85159065	K562	blood:	n/a	n/a
14	ATF1	chr1:85158769-85159095	K562	blood:	n/a	n/a
15	TEAD4	chr1:85158568-85159126	K562	blood:	n/a	n/a
16	MAFF	chr1:85158712-85158982	K562	blood:	n/a	n/a
17	TBP	chr1:85158631-85158878	K562	blood:	n/a	n/a
18	EP300	chr1:85158557-85159052	K562	blood:	n/a	n/a
19	MTA3	chr1:85158577-85159153	GM12878	blood:	n/a	n/a
20	STAT2	chr1:85158596-85158984	K562	blood:	n/a	chr1:85158746-85158761 chr1:85158786-85158801
21	IRF1	chr1:85158486-85159212	K562	blood:	n/a	chr1:85158782-85158803
22	TAL1	chr1:85158692-85158966	K562	blood:	n/a	n/a
23	UBTF	chr1:85158737-85158898	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:85157179..85159526-chr1:85171730..85173430,2	K562	blood:
2	chr1:85156633..85159408-chr1:85174909..85176958,2	MCF-7	breast:
3	chr1:85156360..85157951-chr1:85158216..85159776,2	MCF-7	breast:

Variant related genes	Relation type
SSX2IP	TF binding region
ENSG00000117155	Chromatin interaction

rs_ID	r²[population]
rs11808525	1.00[EUR][1000 genomes]
rs11810288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2911570	1.00[AMR][1000 genomes]
rs72952162	1.00[EUR][1000 genomes]
rs72954017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7546988	1.00[EUR][1000 genomes]

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85157000-85159000	Enhancers	Primary hematopoietic stem cells	blood
2	chr1:85157000-85163000	Weak transcription	Aorta	Aorta
3	chr1:85157000-85164000	Weak transcription	Fetal Lung	lung
4	chr1:85157000-85164600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:85157200-85162800	Weak transcription	NHDF-Ad	bronchial
6	chr1:85157200-85163000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:85157200-85163400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:85157200-85163800	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:85157400-85159000	Enhancers	Fetal Intestine Small	intestine
10	chr1:85157400-85160800	Weak transcription	Fetal Heart	heart
11	chr1:85157400-85161000	Weak transcription	Left Ventricle	heart
12	chr1:85157400-85162600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:85157400-85162800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:85157400-85162800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:85157400-85162800	Weak transcription	Fetal Brain Male	brain
16	chr1:85157400-85163000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:85157400-85163000	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:85157400-85163000	Weak transcription	Esophagus	oesophagus
19	chr1:85157400-85163000	Weak transcription	HSMM	muscle
20	chr1:85157400-85163000	Weak transcription	NHLF	lung
21	chr1:85157400-85163200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:85157400-85163400	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:85157400-85164000	Weak transcription	Fetal Brain Female	brain
24	chr1:85157400-85167200	Weak transcription	Psoas Muscle	Psoas
25	chr1:85157800-85159000	Flanking Active TSS	K562	blood
26	chr1:85158000-85159000	Enhancers	Small Intestine	intestine
27	chr1:85158000-85159200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:85158000-85159200	Flanking Active TSS	Dnd41	blood
29	chr1:85158000-85162800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:85158200-85159200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr1:85158200-85159200	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr1:85158200-85159200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr1:85158200-85163200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:85158200-85164000	Weak transcription	Brain Substantia Nigra	brain
35	chr1:85158400-85159000	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr1:85158400-85159000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:85158400-85159000	Flanking Active TSS	Fetal Kidney	kidney
38	chr1:85158600-85159000	Active TSS	Primary T cells fromperipheralblood	blood
39	chr1:85158600-85159000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:85158600-85159000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:85158600-85159000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr1:85158600-85159200	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr1:85158600-85159200	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr1:85158600-85159200	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr1:85158600-85159200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:85158600-85159200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:85158600-85159200	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr1:85158600-85159200	Flanking Active TSS	Thymus	Thymus
49	chr1:85158600-85159400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr1:85158600-85159600	Enhancers	Fetal Thymus	thymus

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