Variant report

Variant	rs74130914
Chromosome Location	chr1:193045347-193045348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193043234..193047012-chr1:193048456..193052530,5	K562	blood:
2	chr1:193038963..193041634-chr1:193044615..193046803,3	MCF-7	breast:
3	chr1:193028782..193030326-chr1:193044854..193047687,2	MCF-7	breast:
4	chr1:193037549..193041494-chr1:193043863..193047486,4	K562	blood:
5	chr1:193027593..193031183-chr1:193040127..193045745,5	MCF-7	breast:
6	chr1:193020543..193046917-chr1:193069266..193098746,125	K562	blood:
7	chr1:193035173..193037682-chr1:193044708..193047101,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116750	Chromatin interaction
ENSG00000023572	Chromatin interaction
ENSG00000116747	Chromatin interaction
ENSG00000134371	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs34552619	0.85[AMR][1000 genomes]
rs34615282	0.85[AMR][1000 genomes]
rs55842934	0.85[AMR][1000 genomes]
rs56199152	0.85[AMR][1000 genomes]
rs58479385	0.85[AMR][1000 genomes]
rs6671794	0.85[AMR][1000 genomes]
rs6687899	0.85[AMR][1000 genomes]
rs74130911	0.85[AMR][1000 genomes]
rs74130912	0.85[AMR][1000 genomes]
rs74130913	0.85[AMR][1000 genomes]
rs74130916	0.85[AMR][1000 genomes]
rs74130917	0.85[AMR][1000 genomes]
rs74130918	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7522932	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7553830	0.85[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	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
2	nsv998429	chr1:192961698-193050515	Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193029400-193046400	Weak transcription	Gastric	stomach
2	chr1:193029400-193051800	Weak transcription	Esophagus	oesophagus
3	chr1:193029400-193051800	Weak transcription	Pancreas	Pancrea
4	chr1:193029800-193046400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:193030000-193046800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:193030200-193046000	Weak transcription	Thymus	Thymus
7	chr1:193030400-193046400	Weak transcription	Fetal Stomach	stomach
8	chr1:193030400-193046400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:193030400-193051600	Weak transcription	Colonic Mucosa	Colon
10	chr1:193030600-193046200	Weak transcription	Fetal Kidney	kidney
11	chr1:193030600-193048200	Weak transcription	Fetal Intestine Small	intestine
12	chr1:193030800-193045400	Weak transcription	NHDF-Ad	bronchial
13	chr1:193030800-193045600	Weak transcription	NHLF	lung
14	chr1:193030800-193045800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:193030800-193046000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:193030800-193046400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:193030800-193046400	Weak transcription	HSMMtube	muscle
18	chr1:193030800-193050400	Weak transcription	Brain Substantia Nigra	brain
19	chr1:193031200-193046800	Weak transcription	Fetal Brain Male	brain
20	chr1:193031400-193046000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:193032000-193046400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:193033200-193046000	Weak transcription	Small Intestine	intestine
23	chr1:193033200-193046400	Weak transcription	Right Ventricle	heart
24	chr1:193033200-193067600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:193033400-193046400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:193033400-193046600	Weak transcription	HMEC	breast
27	chr1:193033600-193045800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:193033600-193046600	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:193035800-193046400	Weak transcription	Aorta	Aorta
30	chr1:193037800-193051600	Weak transcription	Ovary	ovary
31	chr1:193038600-193046400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:193038800-193046000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:193038800-193046400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:193038800-193046600	Weak transcription	NHEK	skin
35	chr1:193039000-193046400	Weak transcription	Brain Angular Gyrus	brain
36	chr1:193039000-193046400	Weak transcription	HUVEC	blood vessel
37	chr1:193039200-193045600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr1:193039200-193045800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:193039200-193045800	Weak transcription	Liver	Liver
40	chr1:193039200-193045800	Weak transcription	Osteobl	bone
41	chr1:193039200-193046000	Weak transcription	Fetal Intestine Large	intestine
42	chr1:193039200-193046000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr1:193039200-193046400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr1:193039200-193046400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:193039200-193051800	Weak transcription	Lung	lung
46	chr1:193039400-193045800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:193039400-193046600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr1:193039800-193046400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr1:193039800-193046400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:193040000-193046200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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