Variant report

Variant	rs7541012
Chromosome Location	chr1:224403008-224403009
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224391181..224392775-chr1:224402864..224405337,2	K562	blood:
2	chr1:224370877..224372532-chr1:224401645..224404374,2	K562	blood:

Variant related genes	Relation type
ENSG00000143753	Chromatin interaction

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

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

rs_ID	r²[population]
rs6660074	1.00[AMR][1000 genomes]
rs73128424	1.00[AMR][1000 genomes]
rs73128429	1.00[AMR][1000 genomes]
rs73128433	1.00[AMR][1000 genomes]
rs73128442	1.00[AMR][1000 genomes]
rs7514645	1.00[AMR][1000 genomes]
rs7553633	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:60 , 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	chr1:224393800-224405600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:224393800-224414200	Weak transcription	Colonic Mucosa	Colon
5	chr1:224394000-224414000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:224394000-224414600	Weak transcription	HMEC	breast
7	chr1:224398000-224414200	Weak transcription	Spleen	Spleen
8	chr1:224399400-224403600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:224399400-224406600	Weak transcription	Pancreas	Pancrea
10	chr1:224399400-224411000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:224399400-224414200	Weak transcription	Adipose Nuclei	Adipose
12	chr1:224399400-224414200	Weak transcription	Brain Anterior Caudate	brain
13	chr1:224399600-224405600	Weak transcription	Fetal Lung	lung
14	chr1:224400600-224406000	Weak transcription	Fetal Thymus	thymus
15	chr1:224401000-224406600	Weak transcription	Gastric	stomach
16	chr1:224401400-224403400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:224401400-224406000	Weak transcription	Right Atrium	heart
18	chr1:224401400-224413800	Weak transcription	Primary B cells from cord blood	blood
19	chr1:224401400-224413800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:224401400-224414800	Weak transcription	Right Ventricle	heart
21	chr1:224401600-224405600	Weak transcription	Fetal Stomach	stomach
22	chr1:224401600-224406000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:224401600-224406000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:224401600-224414400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:224401800-224403400	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:224401800-224403400	Weak transcription	Left Ventricle	heart
27	chr1:224401800-224403600	Weak transcription	Fetal Heart	heart
28	chr1:224401800-224405400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr1:224401800-224405600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:224401800-224405600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:224401800-224405600	Weak transcription	K562	blood
32	chr1:224401800-224405800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:224401800-224406600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:224401800-224406600	Weak transcription	Placenta	Placenta
35	chr1:224401800-224407000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr1:224401800-224407000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr1:224401800-224411000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:224401800-224411000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:224401800-224411000	Weak transcription	Small Intestine	intestine
40	chr1:224401800-224415200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:224401800-224427600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:224401800-224475400	Weak transcription	Esophagus	oesophagus
43	chr1:224402200-224405800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:224402200-224405800	Weak transcription	Fetal Intestine Small	intestine
45	chr1:224402200-224406600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:224402200-224406600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:224402200-224406600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:224402200-224406600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:224402200-224406600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:224402200-224411000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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