Variant report

Variant	rs11764238
Chromosome Location	chr7:150574505-150574506
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150145854..150146458-chr7:150573963..150574703,2	MCF-7	breast:
2	chr7:150145511..150146032-chr7:150573896..150574858,2	K562	blood:
3	chr7:150574063..150575596-chr7:150684914..150687331,2	K562	blood:
4	chr7:150475526..150476482-chr7:150573625..150574754,8	MCF-7	breast:
5	chr7:150570270..150572638-chr7:150573385..150575681,2	K562	blood:
6	chr7:150573562..150577370-chr7:150577412..150580576,4	K562	blood:
7	chr7:150484477..150485748-chr7:150573549..150574883,10	MCF-7	breast:
8	chr7:150475264..150476504-chr7:150573512..150575222,24	MCF-7	breast:
9	chr7:150475274..150476379-chr7:150573846..150574862,5	K562	blood:
10	chr7:150572299..150575283-chr7:150617480..150621735,3	K562	blood:
11	chr7:150572726..150575481-chr7:150755589..150757663,2	K562	blood:
12	chr7:150573002..150574576-chr7:150869374..150870431,9	K562	blood:
13	chr7:150573882..150574791-chr7:150685692..150686215,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164885	Chromatin interaction
ENSG00000164889	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10249447	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10264535	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264668	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10264799	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264902	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279036	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279051	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279186	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11760854	0.86[ASN][1000 genomes]
rs11761679	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11762854	0.95[ASN][1000 genomes]
rs11767097	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11768123	0.83[ASN][1000 genomes]
rs11770409	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11771771	0.86[ASN][1000 genomes]
rs11772624	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11773715	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12670489	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12670945	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12671154	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17173650	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17173651	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17173652	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17258890	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2191754	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2215562	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2215563	0.86[ASN][1000 genomes]
rs2215564	0.86[ASN][1000 genomes]
rs2373877	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28425705	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28670237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28785222	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28847671	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2888686	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2888687	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2888688	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28889269	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34549882	0.91[ASN][1000 genomes]
rs4266560	0.86[ASN][1000 genomes]
rs4618613	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62492377	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62492378	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62492379	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62492382	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62492398	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66781963	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67091546	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73165560	0.86[ASN][1000 genomes]
rs73165563	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73165568	0.95[ASN][1000 genomes]
rs73165572	0.95[ASN][1000 genomes]
rs73165573	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73167603	0.95[ASN][1000 genomes]
rs732416	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73468653	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73468655	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758894	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780509	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2758140	chr7:150538821-150663697	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv2759574	chr7:150538821-150663697	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv1029395	chr7:150547113-150574552	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv608998	chr7:150565958-150578948	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv967441	chr7:150566747-150612420	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150569000-150576600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:150572400-150574600	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr7:150572600-150574800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr7:150573000-150574600	Enhancers	Primary B cells from peripheral blood	blood
5	chr7:150573000-150575800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:150573200-150574600	Enhancers	Liver	Liver
7	chr7:150573200-150574600	Enhancers	Brain Cingulate Gyrus	brain
8	chr7:150573600-150574800	Enhancers	Brain Anterior Caudate	brain
9	chr7:150573800-150574600	Enhancers	Fetal Intestine Large	intestine
10	chr7:150573800-150574800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr7:150573800-150574800	Enhancers	Brain Substantia Nigra	brain
12	chr7:150573800-150574800	Enhancers	Fetal Lung	lung
13	chr7:150573800-150575000	Enhancers	Fetal Muscle Leg	muscle
14	chr7:150573800-150575000	Enhancers	Placenta	Placenta
15	chr7:150574000-150574600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr7:150574000-150574600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr7:150574000-150574600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:150574000-150575000	Enhancers	Fetal Muscle Trunk	muscle
19	chr7:150574000-150575600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:150574200-150574600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr7:150574200-150574600	Enhancers	Adipose Nuclei	Adipose
22	chr7:150574200-150574600	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr7:150574200-150574800	Active TSS	Colon Smooth Muscle	Colon
24	chr7:150574200-150574800	Enhancers	Right Ventricle	heart
25	chr7:150574200-150575000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:150574200-150575000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:150574200-150575200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:150574400-150574600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr7:150574400-150574600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:150574400-150574600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr7:150574400-150574600	Bivalent/Poised TSS	K562	blood
32	chr7:150574400-150574800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr7:150574400-150574800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr7:150574400-150574800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:150574400-150574800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr7:150574400-150574800	Enhancers	Duodenum Mucosa	Duodenum
37	chr7:150574400-150574800	Enhancers	Fetal Heart	heart
38	chr7:150574400-150574800	Enhancers	Rectal Smooth Muscle	rectum
39	chr7:150574400-150574800	Enhancers	HMEC	breast
40	chr7:150574400-150575000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr7:150574400-150575000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
42	chr7:150574400-150575600	Enhancers	Ovary	ovary
43	chr7:150574400-150578200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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