Variant report

Variant	rs10916191
Chromosome Location	chr1:227845784-227845785
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	chr1:227840840..227843527-chr1:227844086..227846913,2	K562	blood:
2	chr1:227840840..227843774-chr1:227844086..227846968,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1056699	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1060295	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10799430	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10799439	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916171	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10916188	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916203	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1111046	0.81[EUR][1000 genomes]
rs1155807	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12025942	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12033000	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12033610	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1810680	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1923823	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2104245	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2132368	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2172937	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2236360	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2236361	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4500311	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4653856	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6426468	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6426473	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6660432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6693054	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6703846	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs730684	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7522634	0.81[EUR][1000 genomes]
rs7526184	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7533588	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7534403	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7536765	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7539282	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9786978	0.80[EUR][1000 genomes]
rs9969994	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv3327012	chr1:227741102-227890968	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227770000-227853800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:227820600-227861600	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr1:227829400-227859800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:227831800-227850200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr1:227831800-227851600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:227831800-227854600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr1:227831800-227864000	ZNF genes & repeats	Liver	Liver
8	chr1:227832000-227850200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr1:227832000-227854400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr1:227832200-227850600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:227832400-227850400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr1:227832600-227846400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
13	chr1:227833400-227849600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr1:227834000-227847200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:227835000-227852200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:227835000-227852600	ZNF genes & repeats	Fetal Brain Female	brain
17	chr1:227835200-227847800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
18	chr1:227836400-227852200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
19	chr1:227838400-227846600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:227838600-227847200	ZNF genes & repeats	Brain Substantia Nigra	brain
21	chr1:227838600-227849800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:227838600-227854400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:227838800-227849800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
24	chr1:227839600-227847000	Weak transcription	Pancreas	Pancrea
25	chr1:227841200-227852000	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr1:227841200-227852600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr1:227841200-227852800	ZNF genes & repeats	Brain Anterior Caudate	brain
28	chr1:227841400-227846400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:227841600-227852600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
30	chr1:227842000-227846400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
31	chr1:227842800-227845800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr1:227843000-227846000	Weak transcription	Aorta	Aorta
33	chr1:227843200-227849400	Weak transcription	Fetal Thymus	thymus
34	chr1:227843200-227851200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr1:227844200-227847400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:227844400-227846200	ZNF genes & repeats	Fetal Brain Male	brain
37	chr1:227844400-227846400	ZNF genes & repeats	HSMM	muscle
38	chr1:227844400-227847400	ZNF genes & repeats	Brain Hippocampus Middle	brain
39	chr1:227844600-227846400	Active TSS	Right Atrium	heart
40	chr1:227844600-227850800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:227845000-227847000	Weak transcription	Placenta	Placenta
42	chr1:227845200-227846200	Weak transcription	Left Ventricle	heart
43	chr1:227845200-227846200	Weak transcription	Ovary	ovary

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