Variant report

Variant	rs7538701
Chromosome Location	chr1:161306177-161306178
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	chr1:161283978..161286026-chr1:161304913..161306485,2	K562	blood:
2	chr1:161283978..161286487-chr1:161304985..161307259,2	K562	blood:

Variant related genes	Relation type
ENSG00000143252	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11577663	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11578160	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11579939	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580931	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11583870	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584714	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11585941	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16832786	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16832847	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16832849	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16832911	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16832913	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16832945	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4272646	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656296	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427589	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714971	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72714973	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714981	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714982	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714983	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72714985	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715002	0.93[AMR][1000 genomes]
rs7519821	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9793329	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1010776	chr1:161282384-161409218	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv3417674	chr1:161298229-161310433	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161285200-161321400	Weak transcription	Stomach Mucosa	stomach
2	chr1:161285400-161310200	Weak transcription	HUVEC	blood vessel
3	chr1:161285400-161321400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:161286800-161337400	Weak transcription	Fetal Heart	heart
5	chr1:161287000-161337400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:161289600-161317200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:161293200-161306600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:161293200-161307800	Strong transcription	Primary B cells from peripheral blood	blood
9	chr1:161293200-161315200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:161293200-161317000	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:161293200-161317400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:161293400-161307400	Strong transcription	Fetal Stomach	stomach
13	chr1:161293400-161307800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr1:161293400-161315000	Strong transcription	Fetal Intestine Large	intestine
15	chr1:161293600-161307400	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:161293800-161306600	Strong transcription	Fetal Lung	lung
17	chr1:161293800-161306800	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr1:161293800-161307200	Strong transcription	Left Ventricle	heart
19	chr1:161293800-161307200	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:161293800-161307600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:161293800-161307600	Strong transcription	Duodenum Mucosa	Duodenum
22	chr1:161293800-161307600	Strong transcription	Fetal Thymus	thymus
23	chr1:161293800-161307800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:161293800-161308000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:161293800-161309600	Strong transcription	Dnd41	blood
26	chr1:161293800-161313400	Strong transcription	Fetal Muscle Leg	muscle
27	chr1:161293800-161313400	Strong transcription	Placenta	Placenta
28	chr1:161293800-161313400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr1:161293800-161313600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:161293800-161313600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:161293800-161317800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr1:161293800-161317800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr1:161294000-161317000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:161294000-161317200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr1:161294200-161308000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:161294200-161318200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:161294200-161337400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:161294200-161338200	Weak transcription	Small Intestine	intestine
39	chr1:161294600-161307600	Strong transcription	Fetal Muscle Trunk	muscle
40	chr1:161294600-161311200	Weak transcription	NHDF-Ad	bronchial
41	chr1:161295000-161317000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr1:161295000-161317800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:161296000-161312600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:161297000-161312000	Weak transcription	Pancreas	Pancrea
45	chr1:161297600-161307000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr1:161297800-161307600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:161297800-161307600	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr1:161298800-161306400	Weak transcription	Colonic Mucosa	Colon
49	chr1:161298800-161307200	Strong transcription	Primary T cells from cord blood	blood
50	chr1:161299000-161307400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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