Variant report

Variant	rs7752473
Chromosome Location	chr6:88321997-88321998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:88315739..88318270-chr6:88321580..88323757,2	K562	blood:
2	chr6:88319727..88322200-chr6:88410593..88412100,2	K562	blood:
3	chr6:88320993..88323406-chr6:88329947..88331786,2	K562	blood:
4	chr6:88303345..88305306-chr6:88319508..88322473,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135336	Chromatin interaction
ENSG00000135334	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs16879559	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16879704	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28381470	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28381475	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28381530	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3763177	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41273297	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4398698	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55755139	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55909105	0.83[ASN][1000 genomes]
rs55916435	0.83[AMR][1000 genomes]
rs55985738	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56092913	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56386021	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56400749	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57573658	0.91[ASN][1000 genomes]
rs58060521	0.84[EUR][1000 genomes]
rs59774543	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60082015	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60316099	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66464758	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs66502414	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66663658	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs66833561	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs66965134	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67371470	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67700862	0.84[EUR][1000 genomes]
rs67956402	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67978476	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67993159	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs68082038	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs68105619	0.91[AMR][1000 genomes]
rs6903344	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6907107	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6923655	0.80[EUR][1000 genomes]
rs6932733	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6933305	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs715207	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72922561	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72922577	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72924341	0.86[ASN][1000 genomes]
rs72924342	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73498106	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7747792	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7753275	0.82[AMR][1000 genomes]
rs7769144	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1031961	chr6:88110401-88367006	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1031460	chr6:88153079-88410050	Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1026482	chr6:88164934-88409728	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1027706	chr6:88168987-88409728	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88300400-88323400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:88300600-88323400	Weak transcription	Gastric	stomach
3	chr6:88300600-88391200	Weak transcription	Colonic Mucosa	Colon
4	chr6:88300800-88323600	Weak transcription	Aorta	Aorta
5	chr6:88301000-88323600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:88301000-88330200	Weak transcription	Right Ventricle	heart
7	chr6:88301000-88347200	Weak transcription	Small Intestine	intestine
8	chr6:88301200-88323400	Weak transcription	Thymus	Thymus
9	chr6:88301200-88385000	Weak transcription	Colon Smooth Muscle	Colon
10	chr6:88301400-88322400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr6:88301400-88338400	Weak transcription	NHLF	lung
12	chr6:88301400-88354400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr6:88301400-88354600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:88302000-88347400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr6:88302000-88354400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:88302000-88354600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:88305000-88398800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:88305200-88329000	Weak transcription	HSMMtube	muscle
19	chr6:88305600-88322400	Weak transcription	Brain Anterior Caudate	brain
20	chr6:88305600-88322400	Weak transcription	Psoas Muscle	Psoas
21	chr6:88305800-88325200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr6:88306000-88322400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:88307400-88322400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr6:88308800-88369800	Weak transcription	Fetal Brain Male	brain
25	chr6:88311400-88334600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:88312200-88371200	Weak transcription	NHEK	skin
27	chr6:88312400-88380600	Weak transcription	Brain Substantia Nigra	brain
28	chr6:88313800-88338200	Weak transcription	NHDF-Ad	bronchial
29	chr6:88314000-88384800	Weak transcription	Hela-S3	cervix
30	chr6:88314200-88399200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr6:88314600-88385000	Weak transcription	Esophagus	oesophagus
32	chr6:88315200-88327000	Weak transcription	Fetal Heart	heart
33	chr6:88315400-88327000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr6:88315400-88334600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:88315800-88322600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:88315800-88322800	Strong transcription	Liver	Liver
37	chr6:88315800-88324400	Strong transcription	Placenta	Placenta
38	chr6:88315800-88324400	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr6:88315800-88326800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:88315800-88327000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:88315800-88327200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr6:88316000-88324200	Strong transcription	Dnd41	blood
43	chr6:88316000-88325200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:88316200-88324400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:88316400-88330600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr6:88316600-88322400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr6:88316600-88328200	Weak transcription	HUVEC	blood vessel
48	chr6:88316600-88381200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:88316600-88390000	Weak transcription	Pancreas	Pancrea
50	chr6:88316800-88324800	Weak transcription	Primary hematopoietic stem cells	blood

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