Variant report

Variant	rs73280005
Chromosome Location	chr8:99049259-99049260
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	RAD21	chr8:99049168-99049733	IMR90	lung:	n/a	chr8:99049519-99049538
2	RAD21	chr8:99049230-99049794	ECC-1	luminal epithelium:	n/a	chr8:99049519-99049538
3	CTCF	chr8:99049205-99049794	MCF-7	breast:	n/a	chr8:99049516-99049537 chr8:99049523-99049536 chr8:99049522-99049538
4	POLR2A	chr8:99049222-99049590	U87	brain:	n/a	n/a
5	POLR2A	chr8:99049222-99049592	MCF-7	breast:	n/a	n/a
6	CTCF	chr8:99049164-99049858	A549	lung:	n/a	chr8:99049516-99049537 chr8:99049523-99049536 chr8:99049522-99049538
7	RAD21	chr8:99049240-99049638	HCT-116	colon:	n/a	chr8:99049519-99049538
8	RAD21	chr8:99049079-99049861	SK-N-SH	brain:	n/a	chr8:99049519-99049538
9	CTCF	chr8:99049160-99049310	HCT-116	colon:	n/a	n/a
10	RAD21	chr8:99049214-99049766	H1-hESC	embryonic stem cell:	n/a	chr8:99049519-99049538
11	SMC3	chr8:99049096-99049847	SK-N-SH	brain:	n/a	chr8:99049523-99049537
12	RAD21	chr8:99049187-99049798	A549	lung:	n/a	chr8:99049519-99049538
13	NFIC	chr8:99049217-99049653	SK-N-SH	brain:	n/a	n/a
14	CTCF	chr8:99049242-99049748	A549	lung:	n/a	chr8:99049516-99049537 chr8:99049523-99049536 chr8:99049522-99049538
15	RAD21	chr8:99049211-99049791	ECC-1	luminal epithelium:	n/a	chr8:99049519-99049538
16	POLR2A	chr8:99048969-99049585	SK-N-MC	brain:	n/a	n/a
17	RAD21	chr8:99049231-99049721	SK-N-SH_RA	brain:	n/a	chr8:99049519-99049538
18	CTCF	chr8:99049067-99049851	SK-N-SH	brain:	n/a	chr8:99049516-99049537 chr8:99049523-99049536 chr8:99049522-99049538
19	POLR2A	chr8:99049232-99049589	PANC-1	pancreas:	n/a	n/a
20	RAD21	chr8:99049177-99049745	A549	lung:	n/a	chr8:99049519-99049538
21	POLR2A	chr8:99049224-99049591	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr8:99049232-99049593	SK-N-SH	brain:	n/a	n/a
23	RAD21	chr8:99049202-99049643	MCF-7	breast:	n/a	chr8:99049519-99049538
24	CTCF	chr8:99049249-99049594	HepG2	liver:	n/a	chr8:99049516-99049537 chr8:99049523-99049536 chr8:99049522-99049538
25	CHD1	chr8:99049138-99049764	IMR90	lung:	n/a	n/a
26	RAD21	chr8:99049186-99049644	MCF-7	breast:	n/a	chr8:99049519-99049538
27	CTCF	chr8:99049203-99049756	HCT-116	colon:	n/a	chr8:99049516-99049537 chr8:99049523-99049536 chr8:99049522-99049538
28	RAD21	chr8:99049154-99049856	HCT-116	colon:	n/a	chr8:99049519-99049538
29	POLR2A	chr8:99049154-99049593	U87	brain:	n/a	n/a
30	RFX5	chr8:99049108-99049968	SK-N-SH	brain:	n/a	n/a
31	MXI1	chr8:99049185-99049762	SK-N-SH	brain:	n/a	n/a
32	CTCF	chr8:99049195-99049642	HCT-116	colon:	n/a	chr8:99049516-99049537 chr8:99049523-99049536 chr8:99049522-99049538
33	CTCF	chr8:99049258-99049727	IMR90	lung:	n/a	chr8:99049516-99049537 chr8:99049523-99049536 chr8:99049522-99049538
34	PBX3	chr8:99049141-99049661	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:99027135..99029691-chr8:99048114..99051016,2	MCF-7	breast:
2	chr8:99049137..99049962-chr8:99097475..99098130,3	MCF-7	breast:
3	chr8:99036901..99042380-chr8:99048978..99052398,6	K562	blood:
4	chr8:98879039..98882289-chr8:99048054..99050789,3	MCF-7	breast:
5	chr8:98748240..98749011-chr8:99049100..99049993,4	MCF-7	breast:
6	chr8:99048693..99052223-chr8:99096382..99099450,4	MCF-7	breast:
7	chr8:98836192..98838039-chr8:99048149..99050956,2	MCF-7	breast:
8	chr8:98745788..98747490-chr8:99049212..99051355,2	MCF-7	breast:
9	chr8:98607489..98608318-chr8:99048585..99049475,2	K562	blood:
10	chr8:98851881..98852800-chr8:99049004..99050225,6	MCF-7	breast:
11	chr8:98851803..98852719-chr8:99048547..99049949,3	MCF-7	breast:
12	chr8:98572259..98572828-chr8:99049075..99049999,3	K562	blood:
13	chr8:98748293..98749219-chr8:99049137..99049960,4	K562	blood:
14	chr8:99015593..99019656-chr8:99049212..99053715,4	MCF-7	breast:
15	chr8:99045803..99047373-chr8:99047761..99049281,2	K562	blood:
16	chr8:99043990..99046244-chr8:99047156..99049602,2	MCF-7	breast:
17	chr8:99049228..99052661-chr8:99128239..99131446,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245970	TF binding region
ENSG00000132541	Chromatin interaction
ENSG00000104356	Chromatin interaction
ENSG00000132561	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73278251	1.00[AMR][1000 genomes]
rs73278301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280039	1.00[AMR][1000 genomes]
rs7831921	1.00[AMR][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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99021200-99053600	Weak transcription	A549	lung
2	chr8:99022400-99055200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:99024000-99054800	Weak transcription	Right Ventricle	heart
4	chr8:99024200-99055000	Weak transcription	Fetal Brain Male	brain
5	chr8:99024200-99056000	Weak transcription	Spleen	Spleen
6	chr8:99025000-99052800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:99029000-99053600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr8:99030600-99053400	Weak transcription	Pancreas	Pancrea
9	chr8:99030600-99056800	Weak transcription	Aorta	Aorta
10	chr8:99031000-99055400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:99033800-99054800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:99033800-99055200	Weak transcription	Small Intestine	intestine
13	chr8:99033800-99055600	Weak transcription	Left Ventricle	heart
14	chr8:99034200-99050800	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:99034200-99054200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:99034200-99054800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:99036800-99053200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:99037200-99053200	Weak transcription	Fetal Intestine Small	intestine
19	chr8:99037600-99052400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:99037600-99054800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:99037600-99056400	Weak transcription	Lung	lung
22	chr8:99039200-99053000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:99041400-99053600	Weak transcription	Psoas Muscle	Psoas
24	chr8:99041600-99051400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:99042400-99053000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:99043600-99055400	Weak transcription	Esophagus	oesophagus
27	chr8:99043800-99052400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr8:99044200-99054400	Weak transcription	Brain Germinal Matrix	brain
29	chr8:99044200-99054400	Weak transcription	HepG2	liver
30	chr8:99044600-99050200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr8:99044600-99054200	Weak transcription	Fetal Lung	lung
32	chr8:99044800-99052400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:99044800-99052600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:99044800-99052600	Weak transcription	NH-A	brain
35	chr8:99044800-99057000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr8:99045400-99054000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:99045400-99054800	Weak transcription	Stomach Mucosa	stomach
38	chr8:99045600-99056800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:99045800-99051000	Weak transcription	Fetal Brain Female	brain
40	chr8:99045800-99053400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:99046000-99053000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr8:99046000-99055200	Weak transcription	Brain Substantia Nigra	brain
43	chr8:99046200-99051800	Weak transcription	K562	blood
44	chr8:99046200-99052400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:99046200-99052800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr8:99046200-99053200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr8:99046200-99054200	Weak transcription	NHDF-Ad	bronchial
48	chr8:99046200-99054800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr8:99046200-99054800	Weak transcription	Brain Angular Gyrus	brain
50	chr8:99046200-99056400	Weak transcription	H9 Cell Line	embryonic stem cell

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