Variant report

Variant	rs11799543
Chromosome Location	chr1:93818554-93818555
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:93818485-93818640	K562	blood:	n/a	n/a
2	ZNF384	chr1:93818369-93818555	K562	blood:	n/a	n/a
3	POLR2A	chr1:93818460-93818726	K562	blood:	n/a	n/a
4	POLR2A	chr1:93818544-93818736	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:93816828..93819255-chr1:93822966..93824578,2	MCF-7	breast:
2	chr1:93810870..93812810-chr1:93818219..93819742,2	MCF-7	breast:
3	chr1:93717824..93719584-chr1:93817437..93819207,2	K562	blood:

Variant related genes	Relation type
DR1	TF binding region
ENSG00000223745	Chromatin interaction
ENSG00000117505	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10489733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1057256	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11799928	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11800760	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11801175	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11801563	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11802420	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11802421	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11802822	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11805267	1.00[EUR][1000 genomes]
rs11807404	0.91[AMR][1000 genomes]
rs11808445	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11809153	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12239183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28829343	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41528947	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55734759	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55738503	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55741554	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56281837	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56401576	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56657492	0.82[ASN][1000 genomes]
rs58505360	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58770710	1.00[EUR][1000 genomes]
rs58807475	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59368083	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59609847	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59774396	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60079850	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60497651	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60813039	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61252284	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61335636	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61671588	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61690932	1.00[EUR][1000 genomes]
rs61729705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6541348	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6541360	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6541398	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6663752	1.00[EUR][1000 genomes]
rs6664190	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6667540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6671070	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6675991	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6677114	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6679304	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6679630	1.00[ASN][1000 genomes]
rs6688199	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6689867	1.00[EUR][1000 genomes]
rs6695142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6701683	1.00[ASN][1000 genomes]
rs6704067	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955402	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72957210	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72957220	0.82[ASN][1000 genomes]
rs72957300	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72959204	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72959216	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959225	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72959236	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959238	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959240	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959245	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72959255	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959260	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959267	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959273	1.00[ASN][1000 genomes]
rs72961310	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72961322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72961328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74101458	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs74101470	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74104014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74104019	1.00[EUR][1000 genomes]
rs7512471	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7518171	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7518930	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527459	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7529230	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7533526	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7537939	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540960	1.00[ASN][1000 genomes]
rs7544352	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7545154	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7545358	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7548629	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs754899	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9324347	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9659202	0.83[AMR][1000 genomes]
rs9662414	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93812800-93823800	Weak transcription	Spleen	Spleen
2	chr1:93812800-93831000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:93812800-93832200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:93813000-93823800	Weak transcription	Gastric	stomach
5	chr1:93813400-93820200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:93813400-93840000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:93813400-93840400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:93814200-93819200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:93814200-93823600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:93814200-93823800	Weak transcription	Right Ventricle	heart
11	chr1:93814600-93819600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr1:93814800-93820400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:93815000-93820200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:93815200-93819400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:93815200-93821800	Weak transcription	Fetal Stomach	stomach
16	chr1:93815400-93819400	Weak transcription	A549	lung
17	chr1:93815400-93839800	Weak transcription	Aorta	Aorta
18	chr1:93815600-93818600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:93815600-93819000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:93815600-93819200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:93815600-93819600	Enhancers	Adipose Nuclei	Adipose
22	chr1:93815600-93820000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:93815600-93820200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:93815600-93821000	Weak transcription	Brain Germinal Matrix	brain
25	chr1:93815600-93834800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:93815800-93819400	Enhancers	Primary T cells from cord blood	blood
27	chr1:93815800-93819400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr1:93816000-93818800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:93816000-93819000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:93816000-93819600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:93816000-93819600	Enhancers	NHDF-Ad	bronchial
32	chr1:93816000-93823800	Weak transcription	Stomach Mucosa	stomach
33	chr1:93816000-93832200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:93816200-93823400	Weak transcription	HSMMtube	muscle
35	chr1:93816400-93818600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:93816400-93818600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:93816400-93819600	Weak transcription	NH-A	brain
38	chr1:93816600-93818600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:93816600-93818600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:93816600-93818600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:93816600-93818600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:93816600-93818600	Weak transcription	Osteobl	bone
43	chr1:93816600-93818800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:93816600-93819200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr1:93816600-93819200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:93816600-93819200	Weak transcription	Fetal Lung	lung
47	chr1:93816600-93819600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr1:93816600-93819600	Weak transcription	Fetal Brain Male	brain
49	chr1:93816600-93819800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:93816600-93820200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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