Variant report

Variant	rs56033976
Chromosome Location	chr1:151100970-151100971
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151100859..151103920-chr1:151107452..151111935,4	MCF-7	breast:
2	chr1:151099788..151103928-chr1:151106315..151110197,5	K562	blood:
3	chr1:151098453..151101396-chr1:151107263..151109555,3	K562	blood:
4	chr1:151099811..151101500-chr1:151103420..151105169,2	K562	blood:

Variant related genes	Relation type
ENSG00000143434	Chromatin interaction
ENSG00000261168	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11204782	0.89[ASN][1000 genomes]
rs11807526	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11807847	0.87[ASN][1000 genomes]
rs11810447	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11810510	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12087892	0.89[ASN][1000 genomes]
rs2067606	0.81[ASN][1000 genomes]
rs3811402	0.89[ASN][1000 genomes]
rs41305062	0.81[ASN][1000 genomes]
rs56090305	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56299877	0.92[ASN][1000 genomes]
rs7522302	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7523731	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
5	nsv872422	chr1:151098077-151115186	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv872423	chr1:151100612-151115997	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151044400-151103600	Weak transcription	Small Intestine	intestine
2	chr1:151052200-151103000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:151061800-151105600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:151064200-151103400	Weak transcription	Colonic Mucosa	Colon
5	chr1:151067000-151103400	Weak transcription	Fetal Brain Male	brain
6	chr1:151074000-151101000	Weak transcription	Fetal Heart	heart
7	chr1:151079800-151102000	Weak transcription	NHDF-Ad	bronchial
8	chr1:151079800-151103400	Weak transcription	NH-A	brain
9	chr1:151079800-151103400	Weak transcription	NHEK	skin
10	chr1:151079800-151103400	Weak transcription	NHLF	lung
11	chr1:151079800-151106200	Weak transcription	HSMMtube	muscle
12	chr1:151079800-151114800	Weak transcription	HSMM	muscle
13	chr1:151081200-151102000	Weak transcription	Brain Germinal Matrix	brain
14	chr1:151081200-151103400	Weak transcription	GM12878-XiMat	blood
15	chr1:151081400-151103000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:151081800-151103000	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:151083400-151103600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:151085800-151103200	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:151087000-151103600	Weak transcription	Psoas Muscle	Psoas
20	chr1:151089200-151103600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:151090800-151102000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:151090800-151103200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:151090800-151103400	Weak transcription	Primary B cells from cord blood	blood
24	chr1:151090800-151103400	Weak transcription	Brain Angular Gyrus	brain
25	chr1:151090800-151103400	Weak transcription	Ovary	ovary
26	chr1:151090800-151103600	Weak transcription	Esophagus	oesophagus
27	chr1:151090800-151105000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:151091200-151103800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:151091600-151103200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr1:151091600-151103200	Weak transcription	Fetal Lung	lung
31	chr1:151091600-151103600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:151091800-151103000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:151091800-151103000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:151091800-151103200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr1:151091800-151103200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr1:151091800-151103200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:151091800-151103400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:151091800-151103400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr1:151091800-151103400	Weak transcription	Fetal Brain Female	brain
40	chr1:151091800-151103400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr1:151091800-151103400	Weak transcription	Spleen	Spleen
42	chr1:151091800-151103600	Weak transcription	Gastric	stomach
43	chr1:151091800-151103600	Weak transcription	Lung	lung
44	chr1:151091800-151103600	Weak transcription	Pancreas	Pancrea
45	chr1:151091800-151103600	Weak transcription	Right Ventricle	heart
46	chr1:151092000-151103000	Weak transcription	Fetal Intestine Large	intestine
47	chr1:151092000-151103400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:151092200-151103200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr1:151092800-151103600	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr1:151093000-151103200	Weak transcription	Fetal Stomach	stomach

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