Variant report

Variant	rs7545154
Chromosome Location	chr1:93820275-93820276
allele	A/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	POLR2A	chr1:93820063-93820553	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93809720..93812337-chr1:93819779..93821758,3	MCF-7	breast:

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

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

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10489733	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1057256	1.00[EUR][1000 genomes]
rs11799543	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11799928	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11800760	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11801175	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11801563	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11802420	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11802421	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11802822	1.00[EUR][1000 genomes]
rs11805267	1.00[EUR][1000 genomes]
rs11807404	0.84[AMR][1000 genomes]
rs11808445	1.00[EUR][1000 genomes]
rs11809153	1.00[EUR][1000 genomes]
rs12239183	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28829343	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41528947	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55734759	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55738503	1.00[EUR][1000 genomes]
rs55741554	1.00[EUR][1000 genomes]
rs56281837	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56401576	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58505360	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs58770710	1.00[EUR][1000 genomes]
rs59368083	1.00[EUR][1000 genomes]
rs59609847	1.00[EUR][1000 genomes]
rs59774396	1.00[EUR][1000 genomes]
rs60079850	1.00[EUR][1000 genomes]
rs60497651	1.00[EUR][1000 genomes]
rs60813039	1.00[EUR][1000 genomes]
rs61252284	1.00[EUR][1000 genomes]
rs61335636	1.00[EUR][1000 genomes]
rs61671588	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61690932	1.00[EUR][1000 genomes]
rs61729705	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6541348	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6541360	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6541398	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6663752	1.00[EUR][1000 genomes]
rs6664190	1.00[EUR][1000 genomes]
rs6667540	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6671070	1.00[EUR][1000 genomes]
rs6675991	1.00[EUR][1000 genomes]
rs6677114	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6679304	1.00[EUR][1000 genomes]
rs6679630	0.92[ASN][1000 genomes]
rs6688199	1.00[EUR][1000 genomes]
rs6689867	1.00[EUR][1000 genomes]
rs6695142	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6701683	0.92[ASN][1000 genomes]
rs6704067	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72955402	1.00[EUR][1000 genomes]
rs72957210	1.00[EUR][1000 genomes]
rs72957300	0.84[AMR][1000 genomes]
rs72959204	1.00[EUR][1000 genomes]
rs72959216	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72959225	0.92[ASN][1000 genomes]
rs72959236	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72959238	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72959240	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72959245	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72959255	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72959260	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72959267	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72959273	0.92[ASN][1000 genomes]
rs72961310	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72961322	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72961328	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74101458	1.00[EUR][1000 genomes]
rs74101470	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74104014	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74104019	1.00[EUR][1000 genomes]
rs7512471	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7518171	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7518930	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7527459	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7529230	1.00[EUR][1000 genomes]
rs7533526	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7537939	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7540960	0.92[ASN][1000 genomes]
rs7544352	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7545358	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7548629	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs754899	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8489	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8561	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9324347	1.00[EUR][1000 genomes]
rs9662414	0.84[AMR][1000 genomes];0.92[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	chr1:93813400-93840000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:93813400-93840400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:93814200-93823600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:93814200-93823800	Weak transcription	Right Ventricle	heart
9	chr1:93814800-93820400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:93815200-93821800	Weak transcription	Fetal Stomach	stomach
11	chr1:93815400-93839800	Weak transcription	Aorta	Aorta
12	chr1:93815600-93821000	Weak transcription	Brain Germinal Matrix	brain
13	chr1:93815600-93834800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:93816000-93823800	Weak transcription	Stomach Mucosa	stomach
15	chr1:93816000-93832200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:93816200-93823400	Weak transcription	HSMMtube	muscle
17	chr1:93816600-93841800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:93816800-93821800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:93816800-93841200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:93817400-93822400	Weak transcription	Esophagus	oesophagus
21	chr1:93817400-93822800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr1:93817400-93823400	Weak transcription	Lung	lung
23	chr1:93817600-93823800	Weak transcription	Fetal Brain Female	brain
24	chr1:93817600-93824600	Strong transcription	Fetal Intestine Large	intestine
25	chr1:93817800-93820800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
26	chr1:93817800-93822400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:93817800-93832400	Weak transcription	Psoas Muscle	Psoas
28	chr1:93818000-93826400	Strong transcription	Placenta	Placenta
29	chr1:93818000-93835400	Weak transcription	Small Intestine	intestine
30	chr1:93818200-93820600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:93818200-93821800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:93818200-93823600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:93818200-93823600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:93818200-93823800	Weak transcription	Pancreas	Pancrea
35	chr1:93818200-93826400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:93818200-93826600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
37	chr1:93818400-93823200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr1:93818400-93823600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:93818400-93823600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:93818400-93823800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:93818400-93824200	Weak transcription	Brain Substantia Nigra	brain
42	chr1:93818400-93824400	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr1:93818400-93825600	Strong transcription	Primary B cells from cord blood	blood
44	chr1:93818400-93826200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:93818400-93836000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:93818600-93821400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr1:93818600-93821800	Weak transcription	Thymus	Thymus
48	chr1:93818600-93822800	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr1:93818600-93823600	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr1:93818600-93823600	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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