Variant report

Variant	rs72954005
Chromosome Location	chr1:85158197-85158198
allele	A/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	IRF1	chr1:85157074-85159143	K562	blood:	n/a	chr1:85157134-85157147 chr1:85157134-85157147 chr1:85158782-85158803 chr1:85157134-85157147
2	MYC	chr1:85157912-85158486	K562	blood:	n/a	n/a
3	CEBPB	chr1:85158111-85158372	K562	blood:	n/a	n/a
4	MAX	chr1:85158095-85158360	NB4	blood:	n/a	n/a

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

Variant related genes	Relation type
SSX2IP	TF binding region

rs_ID	r²[population]
rs11164046	0.83[AFR][1000 genomes]
rs6680897	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85157000-85158200	Enhancers	Brain Substantia Nigra	brain
2	chr1:85157000-85158400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:85157000-85158400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:85157000-85158600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:85157000-85158600	Enhancers	Primary T cells fromperipheralblood	blood
6	chr1:85157000-85158600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:85157000-85158600	Enhancers	Liver	Liver
8	chr1:85157000-85158600	Enhancers	Stomach Mucosa	stomach
9	chr1:85157000-85158800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:85157000-85159000	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:85157000-85163000	Weak transcription	Aorta	Aorta
12	chr1:85157000-85164000	Weak transcription	Fetal Lung	lung
13	chr1:85157000-85164600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:85157200-85158200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr1:85157200-85158200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:85157200-85158200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr1:85157200-85158200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr1:85157200-85158400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:85157200-85158400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:85157200-85158400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr1:85157200-85158400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:85157200-85158400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr1:85157200-85158400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:85157200-85158400	Enhancers	Fetal Thymus	thymus
25	chr1:85157200-85158600	Enhancers	Primary B cells from cord blood	blood
26	chr1:85157200-85158600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr1:85157200-85158600	Enhancers	Spleen	Spleen
28	chr1:85157200-85158800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:85157200-85162800	Weak transcription	NHDF-Ad	bronchial
30	chr1:85157200-85163000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:85157200-85163400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:85157200-85163800	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:85157400-85158200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr1:85157400-85158200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:85157400-85158200	Enhancers	Primary T cells from cord blood	blood
36	chr1:85157400-85158200	Weak transcription	HMEC	breast
37	chr1:85157400-85158400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr1:85157400-85158400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:85157400-85158400	Enhancers	Fetal Kidney	kidney
40	chr1:85157400-85158600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:85157400-85158600	Enhancers	Duodenum Mucosa	Duodenum
42	chr1:85157400-85158600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:85157400-85158600	Enhancers	Thymus	Thymus
44	chr1:85157400-85158600	Enhancers	HepG2	liver
45	chr1:85157400-85158800	Enhancers	Fetal Intestine Large	intestine
46	chr1:85157400-85159000	Enhancers	Fetal Intestine Small	intestine
47	chr1:85157400-85160800	Weak transcription	Fetal Heart	heart
48	chr1:85157400-85161000	Weak transcription	Left Ventricle	heart
49	chr1:85157400-85162600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:85157400-85162800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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