Variant report

Variant	rs2619516
Chromosome Location	chr6:15660951-15660952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:15660394..15662870-chr6:15679792..15681475,2	K562	blood:
2	chr6:15659552..15664792-chr6:16126837..16130644,6	MCF-7	breast:
3	chr1:153621962..153623668-chr6:15660534..15662735,2	MCF-7	breast:
4	chr6:15655170..15659272-chr6:15659508..15662983,5	MCF-7	breast:
5	chr6:15570441..15572799-chr6:15659666..15662053,2	K562	blood:

Variant related genes	Relation type
ENSG00000007944	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs1018381	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1018382	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1040410	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10949305	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11752196	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752598	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11753919	0.98[EUR][1000 genomes]
rs11755055	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757499	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759609	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13437303	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16876671	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1997679	1.00[ASN][1000 genomes]
rs2205852	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2619519	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619522	0.81[ASN][1000 genomes]
rs2619524	0.81[ASN][1000 genomes]
rs2619525	0.81[ASN][1000 genomes]
rs2619526	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619529	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619530	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2619533	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2619534	0.95[ASN][1000 genomes]
rs2619535	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619540	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619541	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619544	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619545	0.81[ASN][1000 genomes]
rs2619546	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619547	0.81[ASN][1000 genomes]
rs2619548	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619552	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743548	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743549	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743550	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743551	0.95[ASN][1000 genomes]
rs2743552	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2743553	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2743853	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743854	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743856	0.81[ASN][1000 genomes]
rs2743858	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743859	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743860	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743861	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743864	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743865	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743866	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743867	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743869	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743870	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743871	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743872	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6459408	1.00[ASN][1000 genomes]
rs6903159	1.00[ASN][1000 genomes]
rs734129	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7752070	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7770921	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs875463	0.98[EUR][1000 genomes]
rs9296976	0.86[EUR][1000 genomes]
rs9296977	0.87[EUR][1000 genomes]
rs9296978	0.90[EUR][1000 genomes]
rs9296979	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9296980	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9296981	0.98[EUR][1000 genomes]
rs9296984	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9296985	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296987	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296988	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464793	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9464794	0.90[EUR][1000 genomes]
rs9464795	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9464797	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9464801	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464802	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464803	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464805	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464807	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9476835	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9476836	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9476837	0.89[EUR][1000 genomes]
rs9476838	0.98[EUR][1000 genomes]
rs9476839	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9476840	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9476841	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9476842	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9476844	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9476845	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9476846	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9476849	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9476854	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9476858	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9476859	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9476860	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9476863	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9476865	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9476866	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9476867	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9476868	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9476869	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9476883	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv428136	chr6:15595640-15781241	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2755670	chr6:15624762-15736008	Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15615200-15662200	Weak transcription	Gastric	stomach
2	chr6:15616800-15662000	Weak transcription	Placenta	Placenta
3	chr6:15616800-15662200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:15621800-15662200	Weak transcription	Pancreas	Pancrea
5	chr6:15623800-15662000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:15628600-15662000	Weak transcription	NHLF	lung
7	chr6:15629600-15661800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:15632200-15662000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr6:15637200-15662000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:15638200-15662000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:15639400-15662200	Weak transcription	Left Ventricle	heart
12	chr6:15642000-15662000	Weak transcription	Brain Angular Gyrus	brain
13	chr6:15642200-15662200	Weak transcription	Aorta	Aorta
14	chr6:15642400-15661400	Weak transcription	Spleen	Spleen
15	chr6:15642600-15662200	Weak transcription	Esophagus	oesophagus
16	chr6:15642800-15662000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:15642800-15662000	Weak transcription	Lung	lung
18	chr6:15642800-15662000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr6:15643000-15662000	Weak transcription	Fetal Stomach	stomach
20	chr6:15644400-15661800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr6:15644400-15662000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:15644800-15661800	Weak transcription	HepG2	liver
23	chr6:15644800-15662000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr6:15644800-15662000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr6:15645600-15661800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr6:15646000-15662000	Weak transcription	NHDF-Ad	bronchial
27	chr6:15646200-15662000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr6:15647800-15662000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:15648200-15662200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:15648600-15661000	Weak transcription	Fetal Intestine Large	intestine
31	chr6:15648600-15662000	Weak transcription	Fetal Lung	lung
32	chr6:15648800-15662000	Weak transcription	Fetal Brain Female	brain
33	chr6:15649400-15662000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:15649600-15662000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:15649800-15662000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:15649800-15662000	Weak transcription	Liver	Liver
37	chr6:15649800-15662000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr6:15649800-15662200	Weak transcription	HSMM	muscle
39	chr6:15650400-15661800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:15650800-15662000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr6:15651000-15662000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:15651200-15662000	Weak transcription	Adipose Nuclei	Adipose
43	chr6:15652000-15662000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:15654200-15662000	Weak transcription	Right Atrium	heart
45	chr6:15654400-15662000	Weak transcription	Fetal Heart	heart
46	chr6:15655200-15661800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr6:15655200-15662000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:15655200-15662000	Weak transcription	Osteobl	bone
49	chr6:15655600-15661000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr6:15655600-15662200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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