Variant report

Variant	rs7556078
Chromosome Location	chr1:210111969-210111970
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	chr1:210111478..210111978-chr11:236018..236738,2	K562	blood:

Variant related genes	Relation type
ENSG00000185627	Chromatin interaction
ENSG00000142082	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10127635	1.00[EUR][1000 genomes]
rs1016480	1.00[EUR][1000 genomes]
rs1016481	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10863808	1.00[EUR][1000 genomes]
rs11119380	1.00[EUR][1000 genomes]
rs11119393	1.00[EUR][1000 genomes]
rs11119395	1.00[EUR][1000 genomes]
rs11119402	1.00[EUR][1000 genomes]
rs11119404	1.00[EUR][1000 genomes]
rs11119408	1.00[EUR][1000 genomes]
rs11119411	1.00[EUR][1000 genomes]
rs11801400	1.00[EUR][1000 genomes]
rs11810848	1.00[EUR][1000 genomes]
rs11811996	1.00[EUR][1000 genomes]
rs12059259	1.00[EUR][1000 genomes]
rs12073806	1.00[EUR][1000 genomes]
rs12078871	1.00[EUR][1000 genomes]
rs12079711	1.00[EUR][1000 genomes]
rs12080332	1.00[EUR][1000 genomes]
rs12082067	1.00[EUR][1000 genomes]
rs12085355	1.00[EUR][1000 genomes]
rs12086145	1.00[EUR][1000 genomes]
rs12089636	1.00[EUR][1000 genomes]
rs12090781	1.00[EUR][1000 genomes]
rs12092551	1.00[EUR][1000 genomes]
rs12093254	1.00[EUR][1000 genomes]
rs12239153	1.00[EUR][1000 genomes]
rs12239590	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12239724	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1334572	1.00[EUR][1000 genomes]
rs13376651	1.00[EUR][1000 genomes]
rs1413698	1.00[EUR][1000 genomes]
rs1591300	1.00[EUR][1000 genomes]
rs1602289	1.00[EUR][1000 genomes]
rs17015476	1.00[EUR][1000 genomes]
rs17015480	1.00[EUR][1000 genomes]
rs17015532	1.00[EUR][1000 genomes]
rs17015561	1.00[EUR][1000 genomes]
rs17015638	1.00[EUR][1000 genomes]
rs17015652	1.00[EUR][1000 genomes]
rs17041975	1.00[EUR][1000 genomes]
rs2018942	1.00[EUR][1000 genomes]
rs2130626	1.00[EUR][1000 genomes]
rs2130627	1.00[EUR][1000 genomes]
rs2130628	1.00[EUR][1000 genomes]
rs2171988	1.00[EUR][1000 genomes]
rs34400113	1.00[EUR][1000 genomes]
rs35046399	1.00[EUR][1000 genomes]
rs56075770	1.00[EUR][1000 genomes]
rs56105015	1.00[EUR][1000 genomes]
rs56271040	1.00[EUR][1000 genomes]
rs56733441	1.00[EUR][1000 genomes]
rs57082045	1.00[EUR][1000 genomes]
rs57790572	1.00[EUR][1000 genomes]
rs58701658	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58775140	1.00[EUR][1000 genomes]
rs59230578	1.00[EUR][1000 genomes]
rs61049229	1.00[EUR][1000 genomes]
rs61644695	0.90[AMR][1000 genomes]
rs6540577	1.00[EUR][1000 genomes]
rs6689269	1.00[EUR][1000 genomes]
rs6692116	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6692822	1.00[EUR][1000 genomes]
rs73066422	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73066498	1.00[EUR][1000 genomes]
rs73068419	1.00[EUR][1000 genomes]
rs73072224	1.00[EUR][1000 genomes]
rs74156272	1.00[EUR][1000 genomes]
rs7512760	1.00[EUR][1000 genomes]
rs7515629	1.00[EUR][1000 genomes]
rs7523089	1.00[EUR][1000 genomes]
rs7530907	1.00[EUR][1000 genomes]
rs7536495	1.00[EUR][1000 genomes]
rs970788	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs978754	1.00[EUR][1000 genomes]
rs9803620	1.00[EUR][1000 genomes]
rs9970894	1.00[EUR][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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873140	chr1:210068117-210335644	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1825811	chr1:210082206-210135806	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1821002	chr1:210108473-210291476	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3438109	chr1:210110354-210112902	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210110200-210112400	Active TSS	Brain Anterior Caudate	brain
2	chr1:210110200-210112800	Active TSS	Brain Angular Gyrus	brain
3	chr1:210110400-210112400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr1:210110400-210112800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr1:210110400-210112800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:210110600-210112000	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr1:210110600-210112000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:210110600-210112000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:210110600-210112000	Active TSS	Brain Cingulate Gyrus	brain
10	chr1:210110600-210112200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:210110600-210112200	Bivalent/Poised TSS	Osteobl	bone
12	chr1:210110600-210112400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr1:210110600-210112600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:210110600-210112800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr1:210110600-210113000	Active TSS	Fetal Brain Female	brain
16	chr1:210110600-210113200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:210110800-210112000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr1:210110800-210112000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:210110800-210112000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:210110800-210112000	Active TSS	Brain Germinal Matrix	brain
21	chr1:210110800-210112000	Bivalent Enhancer	Small Intestine	intestine
22	chr1:210110800-210112000	Bivalent/Poised TSS	HSMMtube	muscle
23	chr1:210110800-210112000	Active TSS	NHLF	lung
24	chr1:210110800-210112200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:210110800-210112200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:210110800-210112200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:210110800-210112200	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr1:210110800-210112200	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr1:210110800-210112400	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr1:210110800-210112400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:210110800-210112400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:210111000-210112000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:210111000-210112000	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr1:210111000-210112000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
35	chr1:210111000-210112000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:210111000-210112000	Active TSS	Muscle Satellite Cultured Cells	--
37	chr1:210111000-210112000	Bivalent/Poised TSS	Thymus	Thymus
38	chr1:210111000-210112000	Active TSS	HMEC	breast
39	chr1:210111000-210112000	Bivalent/Poised TSS	HUVEC	blood vessel
40	chr1:210111000-210112000	Active TSS	NHDF-Ad	bronchial
41	chr1:210111000-210112200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:210111000-210112200	Bivalent Enhancer	Lung	lung
43	chr1:210111000-210112400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:210111000-210112400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:210111000-210112400	Active TSS	Brain Substantia Nigra	brain
46	chr1:210111000-210112600	Active TSS	Brain Hippocampus Middle	brain
47	chr1:210111000-210112800	Active TSS	NH-A	brain
48	chr1:210111200-210112000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr1:210111200-210112000	Weak transcription	Fetal Brain Male	brain
50	chr1:210111200-210112200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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