Variant report

Variant	rs2893273
Chromosome Location	chr1:95169441-95169442
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	chr1:95168507..95171353-chr1:95175689..95177754,2	K562	blood:

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10218699	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10218700	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10218701	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10493877	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10782990	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10782991	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10874879	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10874880	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10874881	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10874882	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10874883	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10874884	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11165209	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11165210	1.00[CEU][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11165211	1.00[CEU][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11165212	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11165215	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11165217	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11165218	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11165219	0.82[AMR][1000 genomes]
rs11165220	0.82[AMR][1000 genomes]
rs11165221	0.82[AMR][1000 genomes]
rs12085094	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12089652	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12116841	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12117807	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12120217	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12127717	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12128735	0.80[AMR][1000 genomes]
rs12138432	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12145601	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12409876	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12409905	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12409906	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12725936	0.84[AMR][1000 genomes]
rs12736683	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12739283	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12739612	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12739646	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12740172	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12743410	0.84[AMR][1000 genomes]
rs12750395	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12756850	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12756853	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12757140	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12757198	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12757945	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12758342	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12760023	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12760228	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12760666	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1493275	0.82[AMR][1000 genomes]
rs1493276	0.82[AMR][1000 genomes]
rs1493277	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1772893	0.91[EUR][1000 genomes]
rs1778190	0.91[EUR][1000 genomes]
rs1873878	0.82[AMR][1000 genomes]
rs1891871	0.82[AMR][1000 genomes]
rs1891873	0.84[ASN][1000 genomes]
rs1891874	0.84[ASN][1000 genomes]
rs1994850	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2040074	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2040075	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2040076	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2040077	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2391384	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2391385	1.00[CEU][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2391387	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3956597	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4000655	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4000656	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4000657	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4000658	1.00[CEU][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4240958	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4240959	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4240960	1.00[CEU][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4274076	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4319342	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4338361	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4394665	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4567290	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4598496	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4847337	1.00[CEU][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4847338	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4847339	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4847340	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4847341	0.82[AMR][1000 genomes]
rs4847342	0.82[AMR][1000 genomes]
rs4847343	0.82[AMR][1000 genomes]
rs4847344	0.82[AMR][1000 genomes]
rs4847345	0.82[AMR][1000 genomes]
rs6663811	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7412205	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7416454	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7546581	0.82[EUR][1000 genomes]
rs7546594	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7546688	0.80[AMR][1000 genomes]
rs841329	0.88[ASN][1000 genomes]
rs841340	1.00[CEU][hapmap];0.81[JPT][hapmap];0.90[EUR][1000 genomes]
rs841359	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs841361	0.91[EUR][1000 genomes]
rs841362	0.91[EUR][1000 genomes]
rs841366	0.88[EUR][1000 genomes]
rs859337	0.92[EUR][1000 genomes]
rs923815	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs964213	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871001	chr1:95128546-95171891	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv871916	chr1:95143999-95189230	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1001043	chr1:95158042-95185906	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95152800-95195000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:95153000-95173000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:95155800-95173200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:95164800-95171000	Weak transcription	HSMMtube	muscle
5	chr1:95164800-95174000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:95165000-95171000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:95165000-95173200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:95165000-95175400	Weak transcription	NH-A	brain
9	chr1:95166000-95171400	Weak transcription	Right Atrium	heart
10	chr1:95166200-95174200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:95168200-95171400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:95168200-95171400	Weak transcription	Stomach Mucosa	stomach
13	chr1:95168200-95173000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:95168200-95173000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:95168200-95174200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:95168200-95174200	Weak transcription	Spleen	Spleen
17	chr1:95168200-95178800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:95168200-95179600	Weak transcription	Placenta	Placenta
19	chr1:95168200-95179800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:95168200-95200400	Weak transcription	Pancreas	Pancrea
21	chr1:95168400-95170600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:95168400-95170600	Weak transcription	HSMM	muscle
23	chr1:95168400-95170800	Weak transcription	Fetal Intestine Large	intestine
24	chr1:95168400-95170800	Weak transcription	Fetal Intestine Small	intestine
25	chr1:95168400-95170800	Weak transcription	Ovary	ovary
26	chr1:95168400-95171200	Weak transcription	Aorta	Aorta
27	chr1:95168400-95171200	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:95168400-95171400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:95168400-95171400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:95168400-95172200	Weak transcription	Fetal Kidney	kidney
31	chr1:95168400-95172400	Weak transcription	Gastric	stomach
32	chr1:95168400-95172400	Weak transcription	NHLF	lung
33	chr1:95168400-95173000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:95168400-95174000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:95168400-95174000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:95168400-95174200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:95168400-95178400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr1:95168400-95179400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:95168600-95170200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:95168600-95171000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:95168600-95171000	Weak transcription	HepG2	liver
42	chr1:95168600-95171400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:95168600-95174200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:95168800-95171400	Weak transcription	Adipose Nuclei	Adipose
45	chr1:95169000-95171000	Weak transcription	NHDF-Ad	bronchial
46	chr1:95169200-95171200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:95169400-95200400	Weak transcription	Colonic Mucosa	Colon

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