Variant report

Variant	rs73502785
Chromosome Location	chr7:140621320-140621321
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140588144..140589724-chr7:140618968..140621680,2	K562	blood:
2	chr7:140538628..140541120-chr7:140619977..140622636,2	K562	blood:
3	chr7:140620388..140623057-chr7:140623263..140624775,2	MCF-7	breast:
4	chr7:140614023..140615840-chr7:140619443..140621784,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157764	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10242534	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10247116	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10251628	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269699	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1267600	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1267601	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1267606	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1267609	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1267611	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1267613	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1267614	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1267617	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1267619	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1267620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1267633	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1267636	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1267638	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1267639	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1267640	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1267642	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1267644	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1267649	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1270193	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1639675	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1639678	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1639679	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17161737	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17161750	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17161767	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1733827	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1733832	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2245716	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2365097	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2365098	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2535947	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2535951	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28577882	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28579189	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6464036	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6464121	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6464123	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6464149	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6464984	0.80[EUR][1000 genomes]
rs6948377	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6949396	0.80[EUR][1000 genomes]
rs6962426	0.80[EUR][1000 genomes]
rs6967652	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6970121	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6975596	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73489562	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73491871	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73497923	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73497924	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73502717	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73502740	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73502747	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73502799	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7787206	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9655610	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv518139	chr7:140512661-140622355	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1017980	chr7:140601863-140721368	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1030195	chr7:140615828-140746345	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140593800-140623200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:140595800-140622400	Weak transcription	Aorta	Aorta
3	chr7:140597200-140623000	Weak transcription	Fetal Kidney	kidney
4	chr7:140599800-140622000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:140600000-140622000	Weak transcription	Brain Anterior Caudate	brain
6	chr7:140600800-140622600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr7:140604000-140622000	Weak transcription	Primary B cells from cord blood	blood
8	chr7:140604200-140623000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:140607200-140621800	Weak transcription	Dnd41	blood
10	chr7:140608600-140622000	Weak transcription	Adipose Nuclei	Adipose
11	chr7:140609200-140623200	Weak transcription	Fetal Stomach	stomach
12	chr7:140610800-140622600	Weak transcription	Right Atrium	heart
13	chr7:140610800-140623200	Weak transcription	Right Ventricle	heart
14	chr7:140612200-140623400	Weak transcription	Gastric	stomach
15	chr7:140613000-140622000	Weak transcription	Small Intestine	intestine
16	chr7:140613000-140622400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:140613200-140622000	Weak transcription	Fetal Intestine Large	intestine
18	chr7:140613200-140623200	Weak transcription	Psoas Muscle	Psoas
19	chr7:140613600-140623400	Weak transcription	Pancreas	Pancrea
20	chr7:140614200-140621800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr7:140614400-140621600	Weak transcription	A549	lung
22	chr7:140614400-140621800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:140614400-140621800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:140614400-140622000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:140614400-140622000	Weak transcription	Brain Angular Gyrus	brain
26	chr7:140614400-140622000	Weak transcription	Fetal Heart	heart
27	chr7:140614400-140622000	Weak transcription	K562	blood
28	chr7:140614400-140623200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:140614600-140622000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr7:140614800-140622200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:140616000-140623200	Weak transcription	Thymus	Thymus
32	chr7:140616400-140622400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:140616600-140621800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:140617200-140621800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:140617400-140621800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr7:140617400-140623200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr7:140617400-140623400	Weak transcription	Left Ventricle	heart
38	chr7:140617600-140621400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr7:140617800-140622600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr7:140618000-140622000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:140618000-140622200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:140618000-140622200	Weak transcription	Fetal Brain Male	brain
43	chr7:140618000-140622600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:140618000-140622600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr7:140618200-140622000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr7:140618400-140622000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr7:140618400-140623200	Weak transcription	Fetal Intestine Small	intestine
48	chr7:140618400-140623200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:140618400-140623400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:140618400-140623400	Weak transcription	Esophagus	oesophagus

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