Variant report

Variant	rs11575521
Chromosome Location	chr7:50535497-50535498
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50534464..50537080-chr7:50740963..50742721,2	K562	blood:
2	chr7:50535432..50535989-chr7:51209022..51209741,2	MCF-7	breast:
3	chr7:50527491..50529507-chr7:50534060..50535878,2	K562	blood:
4	chr7:50530045..50531842-chr7:50534711..50537256,2	K562	blood:
5	chr7:50535443..50536367-chr7:50700303..50701436,9	MCF-7	breast:
6	chr7:50535360..50536453-chr7:51227965..51229366,4	K562	blood:
7	chr7:50535422..50536008-chr7:50746534..50747495,4	MCF-7	breast:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1037350	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10499691	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1107742	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1107743	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575282	0.91[ASN][1000 genomes]
rs11575286	0.91[ASN][1000 genomes]
rs11575313	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11575321	0.93[ASN][1000 genomes]
rs11575322	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11575338	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11575349	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11575410	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575442	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575548	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11575553	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11575562	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11976368	0.93[ASN][1000 genomes]
rs11978591	0.93[ASN][1000 genomes]
rs1349491	0.91[ASN][1000 genomes]
rs1470748	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133817	0.93[ASN][1000 genomes]
rs17133826	0.93[ASN][1000 genomes]
rs17553036	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17634476	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17634717	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17634958	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17635123	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2100279	0.93[ASN][1000 genomes]
rs2122817	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242041	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2329367	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329369	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2876826	0.89[ASN][1000 genomes]
rs2876830	0.91[ASN][1000 genomes]
rs34672220	0.84[ASN][1000 genomes]
rs35399233	0.84[ASN][1000 genomes]
rs3779081	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3807553	0.93[ASN][1000 genomes]
rs4602840	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56056130	0.93[ASN][1000 genomes]
rs61016409	0.84[ASN][1000 genomes]
rs6959427	0.89[ASN][1000 genomes]
rs71018475	0.87[ASN][1000 genomes]
rs73117270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73119230	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73119239	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73119245	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73119251	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73121271	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73121282	0.98[ASN][1000 genomes]
rs73121285	0.98[ASN][1000 genomes]
rs73121287	0.98[ASN][1000 genomes]
rs73121290	0.98[ASN][1000 genomes]
rs73121292	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73123220	0.93[ASN][1000 genomes]
rs73123247	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73123249	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73123251	0.93[ASN][1000 genomes]
rs73123254	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73123257	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73123261	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73123264	0.93[ASN][1000 genomes]
rs73123266	0.93[ASN][1000 genomes]
rs73123283	0.91[ASN][1000 genomes]
rs73123285	0.91[ASN][1000 genomes]
rs73123291	0.91[ASN][1000 genomes]
rs73125208	0.88[ASN][1000 genomes]
rs73125215	0.88[ASN][1000 genomes]
rs73125225	0.88[ASN][1000 genomes]
rs73695642	0.93[ASN][1000 genomes]
rs73695660	0.93[ASN][1000 genomes]
rs73695663	0.93[ASN][1000 genomes]
rs7455944	0.84[ASN][1000 genomes]
rs7777600	0.85[ASN][1000 genomes]
rs7797772	0.84[ASN][1000 genomes]
rs896308	0.83[AMR][1000 genomes];0.92[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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1026081	chr7:50525900-50538184	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50518800-50535600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr7:50518800-50535600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:50518800-50535600	Weak transcription	HepG2	liver
4	chr7:50529200-50535600	Strong transcription	Fetal Intestine Large	intestine
5	chr7:50532800-50535600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:50533800-50535600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr7:50534400-50535600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:50534600-50535600	Enhancers	Brain Germinal Matrix	brain
9	chr7:50534800-50535600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr7:50535000-50535600	Weak transcription	Right Atrium	heart
11	chr7:50535200-50535600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:50535200-50536200	Enhancers	Fetal Brain Male	brain
13	chr7:50535200-50536400	Enhancers	Fetal Thymus	thymus
14	chr7:50535400-50535600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr7:50535400-50535600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr7:50535400-50535600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr7:50535400-50535600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:50535400-50535600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr7:50535400-50535600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:50535400-50535600	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr7:50535400-50535600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:50535400-50535600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:50535400-50535600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:50535400-50535600	Enhancers	Brain Angular Gyrus	brain
25	chr7:50535400-50535600	Active TSS	Brain Anterior Caudate	brain
26	chr7:50535400-50535600	Enhancers	Brain Cingulate Gyrus	brain
27	chr7:50535400-50535600	Enhancers	Brain Hippocampus Middle	brain
28	chr7:50535400-50535600	Enhancers	Colonic Mucosa	Colon
29	chr7:50535400-50535600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr7:50535400-50535600	Enhancers	Fetal Brain Female	brain
31	chr7:50535400-50535600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr7:50535400-50535600	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr7:50535400-50535600	Enhancers	Stomach Smooth Muscle	stomach
34	chr7:50535400-50535600	Active TSS	Hela-S3	cervix
35	chr7:50535400-50535600	Enhancers	K562	blood
36	chr7:50535400-50535600	Bivalent Enhancer	Osteobl	bone
37	chr7:50535400-50535800	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr7:50535400-50535800	Enhancers	Pancreas	Pancrea
39	chr7:50535400-50535800	Flanking Active TSS	Dnd41	blood
40	chr7:50535400-50535800	Enhancers	HUVEC	blood vessel
41	chr7:50535400-50536000	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr7:50535400-50536000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr7:50535400-50536000	Enhancers	Liver	Liver
44	chr7:50535400-50536000	Enhancers	Gastric	stomach
45	chr7:50535400-50536000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr7:50535400-50536000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr7:50535400-50536200	Enhancers	Primary hematopoietic stem cells	blood
48	chr7:50535400-50536200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:50535400-50536200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr7:50535400-50536200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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