Variant report

Variant	rs55723772
Chromosome Location	chr1:180389519-180389520
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180382343..180384575-chr1:180387330..180389916,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135847	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10913962	0.84[AFR][1000 genomes]
rs55817049	1.00[AFR][1000 genomes]
rs55823559	1.00[AFR][1000 genomes]
rs55915848	1.00[AFR][1000 genomes]
rs55952863	1.00[AFR][1000 genomes]
rs56081661	1.00[AFR][1000 genomes]
rs56120807	0.84[AFR][1000 genomes]
rs56395008	1.00[AFR][1000 genomes]
rs57115648	1.00[AFR][1000 genomes]
rs57226792	1.00[AFR][1000 genomes]
rs57465003	1.00[AFR][1000 genomes]
rs57757716	1.00[AFR][1000 genomes]
rs57897169	1.00[AFR][1000 genomes]
rs58105846	1.00[AFR][1000 genomes]
rs58275341	0.91[AFR][1000 genomes]
rs58386646	1.00[AFR][1000 genomes]
rs58483603	1.00[AFR][1000 genomes]
rs58521362	1.00[AFR][1000 genomes]
rs58565991	1.00[AFR][1000 genomes]
rs58613938	1.00[AFR][1000 genomes]
rs59083148	1.00[AFR][1000 genomes]
rs59378647	0.91[AFR][1000 genomes]
rs59702178	1.00[AFR][1000 genomes]
rs59752237	1.00[AFR][1000 genomes]
rs60449684	1.00[AFR][1000 genomes]
rs61508057	1.00[AFR][1000 genomes]
rs61647778	1.00[AFR][1000 genomes]
rs61694354	1.00[AFR][1000 genomes]
rs74132469	1.00[AFR][1000 genomes]
rs74132470	1.00[AFR][1000 genomes]
rs74132471	1.00[AFR][1000 genomes]
rs74132474	1.00[AFR][1000 genomes]
rs74132479	1.00[AFR][1000 genomes]
rs74132480	1.00[AFR][1000 genomes]
rs74132806	1.00[AFR][1000 genomes]
rs74132809	1.00[AFR][1000 genomes]
rs74132812	1.00[AFR][1000 genomes]
rs74132839	1.00[AFR][1000 genomes]
rs74132840	1.00[AFR][1000 genomes]
rs74132841	1.00[AFR][1000 genomes]
rs74132842	1.00[AFR][1000 genomes]
rs74132843	1.00[AFR][1000 genomes]
rs74132847	1.00[AFR][1000 genomes]
rs74132848	1.00[AFR][1000 genomes]
rs74132850	1.00[AFR][1000 genomes]
rs74132906	1.00[AFR][1000 genomes]
rs74132908	1.00[AFR][1000 genomes]
rs74132909	1.00[AFR][1000 genomes]
rs74132910	1.00[AFR][1000 genomes]
rs74132913	1.00[AFR][1000 genomes]
rs74132916	1.00[AFR][1000 genomes]
rs74132920	1.00[AFR][1000 genomes]
rs74132948	0.91[AFR][1000 genomes]
rs74135060	1.00[AFR][1000 genomes]
rs74135187	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv527918	chr1:180279710-180443808	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1013716	chr1:180287338-180477072	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
5	nsv535221	chr1:180287338-180477072	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
6	esv2762200	chr1:180300936-180493841	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
7	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
8	nsv1014937	chr1:180360900-180399555	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180341200-180401400	Weak transcription	Osteobl	bone
2	chr1:180349400-180407000	Weak transcription	Esophagus	oesophagus
3	chr1:180352800-180399400	Weak transcription	Fetal Thymus	thymus
4	chr1:180355200-180402600	Weak transcription	HMEC	breast
5	chr1:180355600-180390800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:180356600-180394000	Weak transcription	NHDF-Ad	bronchial
7	chr1:180356800-180406200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:180356800-180407000	Weak transcription	Aorta	Aorta
9	chr1:180360400-180394200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:180361400-180407600	Weak transcription	HepG2	liver
11	chr1:180364000-180394200	Weak transcription	HSMMtube	muscle
12	chr1:180364400-180392800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:180364400-180401600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:180364600-180401000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:180364800-180390200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:180365000-180391200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:180365000-180401000	Weak transcription	Ovary	ovary
18	chr1:180365200-180390200	Weak transcription	Brain Angular Gyrus	brain
19	chr1:180365200-180420600	Weak transcription	A549	lung
20	chr1:180365400-180402600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:180366200-180390200	Weak transcription	Fetal Brain Male	brain
22	chr1:180366600-180393600	Weak transcription	NH-A	brain
23	chr1:180366800-180394000	Weak transcription	Fetal Lung	lung
24	chr1:180370600-180391400	Weak transcription	Lung	lung
25	chr1:180371200-180394400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:180374600-180394200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:180374600-180404000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:180374800-180394000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:180374800-180394000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:180376200-180407400	Weak transcription	NHLF	lung
31	chr1:180376800-180395800	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:180377000-180394200	Weak transcription	Gastric	stomach
33	chr1:180377800-180390200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:180379000-180430800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:180379400-180393600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr1:180379400-180394000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:180379800-180406000	Weak transcription	Left Ventricle	heart
38	chr1:180380200-180396800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:180380400-180391200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr1:180380400-180401000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:180380400-180408000	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr1:180381200-180391600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:180381200-180393400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:180381200-180393600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr1:180381200-180402800	Weak transcription	NHEK	skin
46	chr1:180381200-180406400	Weak transcription	Fetal Stomach	stomach
47	chr1:180381400-180391400	Weak transcription	Fetal Intestine Small	intestine
48	chr1:180381400-180401000	Weak transcription	HSMM	muscle
49	chr1:180381800-180393400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:180381800-180397600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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