Variant report

Variant	rs2472551
Chromosome Location	chr1:172518012-172518013
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	KAP1	chr1:172517996-172518267	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:172510611..172514641-chr1:172517107..172521407,5	K562	blood:
2	chr1:172500260..172503470-chr1:172516553..172520247,3	MCF-7	breast:
3	chr1:172518008..172521748-chr1:172521862..172526550,7	K562	blood:
4	chr1:172503233..172505429-chr1:172517362..172521428,4	MCF-7	breast:

Variant related genes	Relation type
SUCO	TF binding region
ENSG00000094975	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs2516063	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35344763	1.00[EUR][1000 genomes]
rs55678532	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56001419	1.00[EUR][1000 genomes]
rs56884575	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57117081	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57600271	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58097538	1.00[EUR][1000 genomes]
rs58481917	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58852323	1.00[EUR][1000 genomes]
rs58899638	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60296720	1.00[EUR][1000 genomes]
rs60345777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60485575	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61692965	1.00[EUR][1000 genomes]
rs6683359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73032190	1.00[EUR][1000 genomes]
rs73034011	1.00[EUR][1000 genomes]
rs74124226	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124228	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124239	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124241	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124242	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124244	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124245	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124255	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124258	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7526530	1.00[EUR][1000 genomes]
rs7538218	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872547	chr1:172511969-172545832	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv872548	chr1:172518012-172551724	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172503400-172528600	Weak transcription	Aorta	Aorta
2	chr1:172503400-172528600	Weak transcription	Lung	lung
3	chr1:172503600-172520200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:172503600-172531600	Weak transcription	Esophagus	oesophagus
5	chr1:172503800-172529000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:172503800-172534200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:172504000-172524400	Weak transcription	HSMM	muscle
8	chr1:172504200-172527000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:172504400-172519400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr1:172505200-172518800	Weak transcription	Brain Angular Gyrus	brain
11	chr1:172505800-172519600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:172506000-172519000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:172506000-172532600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:172506200-172525000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:172506200-172526200	Weak transcription	Fetal Intestine Large	intestine
16	chr1:172506200-172528400	Weak transcription	Fetal Stomach	stomach
17	chr1:172507200-172518400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:172507400-172518400	Weak transcription	NHEK	skin
19	chr1:172507400-172523000	Weak transcription	NHDF-Ad	bronchial
20	chr1:172507400-172526400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:172507400-172528600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:172508200-172519200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:172508200-172526400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:172509400-172530800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:172510000-172518200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:172510000-172524000	Weak transcription	Dnd41	blood
27	chr1:172510000-172525000	Weak transcription	Left Ventricle	heart
28	chr1:172511800-172524800	Weak transcription	Liver	Liver
29	chr1:172511800-172528600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:172511800-172557800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:172512000-172518400	Weak transcription	Brain Substantia Nigra	brain
32	chr1:172512000-172523400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:172512000-172529000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:172512000-172534200	Weak transcription	Gastric	stomach
35	chr1:172512200-172519000	Weak transcription	Brain Anterior Caudate	brain
36	chr1:172512400-172524200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:172513400-172518400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:172513400-172518400	Weak transcription	HepG2	liver
39	chr1:172513600-172524600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:172513800-172525000	Weak transcription	Fetal Thymus	thymus
41	chr1:172514200-172558800	Weak transcription	Small Intestine	intestine
42	chr1:172514400-172526200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:172514600-172519000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:172514600-172524200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:172514800-172518400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr1:172514800-172518800	Weak transcription	Psoas Muscle	Psoas
47	chr1:172514800-172528600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr1:172514800-172530200	Weak transcription	Thymus	Thymus
49	chr1:172515000-172523400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr1:172515000-172524400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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