Variant report

Variant	rs74130922
Chromosome Location	chr1:193109125-193109126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193089678..193094466-chr1:193108770..193113792,7	K562	blood:
2	chr1:193103257..193105981-chr1:193108348..193110147,2	MCF-7	breast:
3	chr1:193089186..193093634-chr1:193104182..193110601,11	MCF-7	breast:
4	chr1:193107723..193109396-chr1:193111888..193113808,2	MCF-7	breast:
5	chr1:193090285..193094192-chr1:193108770..193110535,3	K562	blood:

Variant related genes	Relation type
ENSG00000221680	Chromatin interaction
ENSG00000134371	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16835169	0.83[AMR][1000 genomes]
rs56067713	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58056953	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6665739	0.83[AMR][1000 genomes]
rs6665751	0.83[AMR][1000 genomes]
rs6682435	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6683844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130925	0.83[AMR][1000 genomes]
rs74130927	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130929	0.83[AMR][1000 genomes]
rs74130930	0.83[AMR][1000 genomes]
rs74130931	0.93[AFR][1000 genomes]
rs7531808	0.81[AFR][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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193092600-193109400	Weak transcription	Esophagus	oesophagus
2	chr1:193092600-193141600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:193092800-193115200	Weak transcription	Small Intestine	intestine
4	chr1:193093800-193109200	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:193093800-193115400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:193093800-193125000	Weak transcription	Stomach Mucosa	stomach
7	chr1:193093800-193126400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:193094000-193111200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:193094000-193115400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:193094200-193112200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:193094200-193113000	Strong transcription	Fetal Thymus	thymus
12	chr1:193094400-193109600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:193094600-193110400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:193094800-193155000	Weak transcription	Aorta	Aorta
15	chr1:193095000-193124400	Strong transcription	Dnd41	blood
16	chr1:193097400-193126800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr1:193098800-193110800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:193098800-193111000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:193098800-193112200	Strong transcription	HSMM	muscle
20	chr1:193099000-193119000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:193099200-193112600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:193100000-193115000	Weak transcription	Fetal Brain Male	brain
23	chr1:193101000-193115400	Weak transcription	Psoas Muscle	Psoas
24	chr1:193101000-193140000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:193101400-193111000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr1:193101400-193130000	Weak transcription	Colonic Mucosa	Colon
27	chr1:193101600-193109200	Weak transcription	Fetal Heart	heart
28	chr1:193101600-193109400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:193101600-193109600	Weak transcription	Brain Angular Gyrus	brain
30	chr1:193101600-193124800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr1:193104000-193110200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:193104000-193111600	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr1:193104000-193111800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:193104200-193109200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:193104200-193112200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:193104200-193123400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr1:193104200-193126200	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr1:193104200-193135000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:193104400-193109400	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr1:193104400-193109400	Strong transcription	Adipose Nuclei	Adipose
41	chr1:193104400-193110000	Strong transcription	Fetal Muscle Trunk	muscle
42	chr1:193104400-193110600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr1:193104400-193111400	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr1:193104400-193111600	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr1:193104400-193112000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr1:193104400-193112000	Strong transcription	Primary hematopoietic stem cells	blood
47	chr1:193104400-193112000	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:193104400-193112600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:193104400-193112600	Strong transcription	NH-A	brain
50	chr1:193104400-193113000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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