Variant report

Variant	rs7541774
Chromosome Location	chr1:224406147-224406148
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11805501	1.00[AMR][1000 genomes]
rs56909406	1.00[AMR][1000 genomes]
rs59162484	1.00[AMR][1000 genomes]
rs59796677	1.00[AMR][1000 genomes]
rs6695403	1.00[AMR][1000 genomes]
rs7531983	1.00[AMR][1000 genomes]
rs869944	1.00[AMR][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	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv873223	chr1:224367232-224467117	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224389600-224414400	Weak transcription	Fetal Brain Female	brain
2	chr1:224391600-224407000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:224393800-224414200	Weak transcription	Colonic Mucosa	Colon
4	chr1:224394000-224414000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:224394000-224414600	Weak transcription	HMEC	breast
6	chr1:224398000-224414200	Weak transcription	Spleen	Spleen
7	chr1:224399400-224406600	Weak transcription	Pancreas	Pancrea
8	chr1:224399400-224411000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:224399400-224414200	Weak transcription	Adipose Nuclei	Adipose
10	chr1:224399400-224414200	Weak transcription	Brain Anterior Caudate	brain
11	chr1:224401000-224406600	Weak transcription	Gastric	stomach
12	chr1:224401400-224413800	Weak transcription	Primary B cells from cord blood	blood
13	chr1:224401400-224413800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:224401400-224414800	Weak transcription	Right Ventricle	heart
15	chr1:224401600-224414400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:224401800-224406600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:224401800-224406600	Weak transcription	Placenta	Placenta
18	chr1:224401800-224407000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:224401800-224407000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:224401800-224411000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:224401800-224411000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:224401800-224411000	Weak transcription	Small Intestine	intestine
23	chr1:224401800-224415200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:224401800-224427600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:224401800-224475400	Weak transcription	Esophagus	oesophagus
26	chr1:224402200-224406600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:224402200-224406600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:224402200-224406600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:224402200-224406600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:224402200-224406600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:224402200-224411000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:224402200-224413800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:224402200-224414200	Weak transcription	GM12878-XiMat	blood
34	chr1:224402400-224406400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr1:224402400-224406600	Weak transcription	HepG2	liver
36	chr1:224402400-224406600	Weak transcription	NHEK	skin
37	chr1:224403800-224411000	Weak transcription	Left Ventricle	heart
38	chr1:224404000-224411600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:224404400-224411200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:224405400-224406200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:224405400-224406400	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr1:224405600-224406200	Enhancers	Primary B cells from peripheral blood	blood
43	chr1:224405600-224406200	Enhancers	Primary hematopoietic stem cells	blood
44	chr1:224405600-224406200	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr1:224405600-224406200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:224405600-224406200	Enhancers	Fetal Lung	lung
47	chr1:224405600-224406800	Enhancers	Fetal Stomach	stomach
48	chr1:224405600-224407200	Enhancers	K562	blood
49	chr1:224405600-224407600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr1:224405600-224407800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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