Variant report

Variant	rs67073459
Chromosome Location	chr6:79717326-79717327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:79715703..79719532-chr6:79722802..79725708,3	K562	blood:
2	chr6:79715998..79718423-chr6:79786608..79788657,2	K562	blood:
3	chr6:79704207..79706109-chr6:79716156..79718775,2	K562	blood:

Variant related genes	Relation type
ENSG00000146247	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1021988	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10943611	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11547228	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12110918	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1283320	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1507148	0.89[EUR][1000 genomes]
rs1933238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1963080	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2013420	0.84[EUR][1000 genomes]
rs2089416	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2135768	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2135771	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2135772	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2321894	0.89[EUR][1000 genomes]
rs3812161	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4327648	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55696019	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56769571	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60527133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62424927	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6454089	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66509445	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66537043	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66587298	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67143444	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67192540	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67221234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67241845	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67354417	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67628258	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67763383	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67799776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67815356	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67890480	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67903175	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68067309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68099353	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6936109	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72902902	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73464131	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73464167	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73466226	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73466238	0.82[ASN][1000 genomes]
rs7767182	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs906319	0.85[EUR][1000 genomes]
rs906320	0.85[EUR][1000 genomes]
rs9341755	0.92[EUR][1000 genomes]
rs9343838	0.85[EUR][1000 genomes]
rs9343846	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9350789	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9352673	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9352674	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9359355	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9359358	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9361468	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9968921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9969106	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015352	chr6:79521820-79757024	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv830705	chr6:79659297-79829530	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv604051	chr6:79691175-79728328	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv518477	chr6:79700159-79850427	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79687000-79736000	Strong transcription	HUES6 Cell Line	embryonic stem cell
2	chr6:79687000-79736200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr6:79687200-79717600	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr6:79687200-79735400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:79687200-79741600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr6:79687600-79718600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr6:79687600-79775000	Strong transcription	Dnd41	blood
8	chr6:79687800-79736000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr6:79688400-79742800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:79688400-79744400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr6:79689200-79738800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:79704000-79737400	Weak transcription	Right Ventricle	heart
13	chr6:79704600-79730400	Weak transcription	Fetal Intestine Small	intestine
14	chr6:79704600-79786600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:79705000-79738600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:79705200-79732800	Weak transcription	Lung	lung
17	chr6:79705800-79717400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:79706000-79719000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr6:79706000-79725200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:79706600-79740000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:79706600-79747800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr6:79707400-79731800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:79707400-79737400	Weak transcription	Spleen	Spleen
24	chr6:79707400-79740000	Weak transcription	Small Intestine	intestine
25	chr6:79707400-79755800	Weak transcription	Pancreas	Pancrea
26	chr6:79707400-79786000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:79707400-79786600	Weak transcription	Esophagus	oesophagus
28	chr6:79707600-79717600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr6:79707800-79745200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:79708200-79732800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:79708200-79741800	Weak transcription	A549	lung
32	chr6:79708800-79769600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:79709000-79733600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:79709000-79737400	Weak transcription	Ovary	ovary
35	chr6:79709200-79724800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr6:79709200-79725600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr6:79709400-79726600	Weak transcription	Fetal Brain Male	brain
38	chr6:79710800-79774600	Weak transcription	Psoas Muscle	Psoas
39	chr6:79711400-79719600	Weak transcription	Brain Germinal Matrix	brain
40	chr6:79711800-79724800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr6:79711800-79732200	Weak transcription	NHEK	skin
42	chr6:79711800-79735000	Weak transcription	Colonic Mucosa	Colon
43	chr6:79712200-79741600	Weak transcription	HSMMtube	muscle
44	chr6:79712400-79732000	Weak transcription	HMEC	breast
45	chr6:79712400-79735400	Weak transcription	Brain Substantia Nigra	brain
46	chr6:79713000-79724200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:79713600-79724200	Weak transcription	Fetal Kidney	kidney
48	chr6:79713600-79747000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr6:79714000-79718200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr6:79714000-79724800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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