Variant report

Variant	rs233095
Chromosome Location	chr1:85824816-85824817
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85823950..85826978-chr1:85828513..85831070,3	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1001604	0.84[EUR][1000 genomes]
rs10489513	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11161606	0.82[AMR][1000 genomes]
rs11161607	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11161610	0.81[EUR][1000 genomes]
rs11161611	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12044537	0.86[EUR][1000 genomes]
rs12047422	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12124170	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125557	0.87[EUR][1000 genomes]
rs12140103	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1498373	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1498375	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1554597	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs173026	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs18582	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1884139	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2011825	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2012683	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2177461	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2207368	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2268667	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2300634	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2300637	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs233047	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233050	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233053	0.86[EUR][1000 genomes]
rs233054	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233055	0.87[EUR][1000 genomes]
rs233057	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233058	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233059	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233060	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233061	0.91[EUR][1000 genomes]
rs233062	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233066	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233067	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233068	0.92[EUR][1000 genomes]
rs233069	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233071	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs233072	0.92[EUR][1000 genomes]
rs233074	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233091	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233093	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233097	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs233099	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233108	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233109	0.92[EUR][1000 genomes]
rs233112	0.90[EUR][1000 genomes]
rs233113	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233114	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233115	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233118	0.91[EUR][1000 genomes]
rs233119	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233120	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233121	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233124	0.91[EUR][1000 genomes]
rs233127	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233130	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233131	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233132	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233133	0.91[EUR][1000 genomes]
rs2892888	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3087894	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3768227	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3920521	0.80[AMR][1000 genomes]
rs3949301	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs423105	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4949890	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4949900	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs506082	0.80[EUR][1000 genomes]
rs6576761	0.80[AMR][1000 genomes]
rs6576763	0.84[EUR][1000 genomes]
rs6576764	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6576765	0.84[EUR][1000 genomes]
rs6576766	0.81[EUR][1000 genomes]
rs6576767	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6657817	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6671599	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66811655	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704103	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67611930	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72724606	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs729655	0.81[AMR][1000 genomes]
rs761601	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs997251	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85809200-85826000	Weak transcription	Fetal Brain Female	brain
2	chr1:85809200-85838400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:85809400-85826800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:85809400-85826800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:85809600-85828800	Weak transcription	Brain Anterior Caudate	brain
6	chr1:85809800-85825400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:85809800-85826000	Weak transcription	Stomach Mucosa	stomach
8	chr1:85810600-85825000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:85814200-85839600	Weak transcription	Left Ventricle	heart
10	chr1:85816000-85831400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:85816000-85839600	Weak transcription	Pancreas	Pancrea
12	chr1:85816200-85826000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:85816400-85829000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:85816600-85825000	Weak transcription	Esophagus	oesophagus
15	chr1:85816600-85826600	Weak transcription	Adipose Nuclei	Adipose
16	chr1:85816600-85826800	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:85816600-85827400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:85816600-85836800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:85816800-85826800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:85818200-85826600	Weak transcription	Fetal Intestine Large	intestine
21	chr1:85818200-85826800	Weak transcription	Fetal Stomach	stomach
22	chr1:85818400-85825000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:85822200-85825000	Weak transcription	HUVEC	blood vessel
24	chr1:85822800-85826600	Weak transcription	Fetal Kidney	kidney
25	chr1:85823000-85825600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:85823200-85825600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:85823200-85826000	Weak transcription	Liver	Liver
28	chr1:85823200-85827000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:85823200-85836800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:85823400-85825400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:85823600-85826200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:85823800-85825200	Genic enhancers	HSMM	muscle
33	chr1:85824000-85825000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:85824000-85826200	Weak transcription	HepG2	liver
35	chr1:85824200-85825600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr1:85824400-85826000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:85824400-85826600	Enhancers	NHDF-Ad	bronchial
38	chr1:85824400-85833800	Weak transcription	Fetal Intestine Small	intestine
39	chr1:85824600-85825000	Genic enhancers	Osteobl	bone
40	chr1:85824600-85825600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:85824600-85826000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:85824600-85826000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:85824600-85826400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:85824600-85827600	Enhancers	A549	lung
45	chr1:85824600-85829600	Enhancers	NHLF	lung
46	chr1:85824800-85825000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:85824800-85825000	ZNF genes & repeats	Aorta	Aorta
48	chr1:85824800-85825000	Enhancers	Gastric	stomach
49	chr1:85824800-85825200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:85824800-85825200	Enhancers	Psoas Muscle	Psoas

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