Variant report

Variant	rs1197546
Chromosome Location	chr15:42902246-42902247
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42896121..42899358-chr15:42902188..42907141,4	K562	blood:
2	chr15:42885080..42886874-chr15:42900852..42903433,2	K562	blood:
3	chr15:42867145..42869621-chr15:42900138..42903505,4	K562	blood:
4	chr15:42867145..42869621-chr15:42900138..42903505,3	K562	blood:

Variant related genes	Relation type
ENSG00000159433	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11631193	0.83[ASN][1000 genomes]
rs11632169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1197547	0.99[ASN][1000 genomes]
rs1211642	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12903416	0.87[ASN][1000 genomes]
rs1667493	0.94[ASN][1000 genomes]
rs1705360	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1814518	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2241998	0.80[ASN][1000 genomes]
rs4447398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4923949	0.89[ASN][1000 genomes]
rs565298	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6493053	0.81[ASN][1000 genomes]
rs6493054	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7168835	0.81[ASN][1000 genomes]
rs876992	0.87[AMR][1000 genomes];0.90[ASN][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	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42874800-42929800	Weak transcription	Fetal Brain Female	brain
2	chr15:42877200-42911200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr15:42888800-42909600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr15:42888800-42911000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr15:42889600-42903600	Weak transcription	Ovary	ovary
6	chr15:42895000-42911800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:42895200-42914200	Weak transcription	HepG2	liver
8	chr15:42895200-42920800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:42897800-42903800	Weak transcription	Psoas Muscle	Psoas
10	chr15:42897800-42914600	Weak transcription	Brain Germinal Matrix	brain
11	chr15:42897800-42930200	Weak transcription	HSMM	muscle
12	chr15:42898000-42967800	Weak transcription	Fetal Intestine Small	intestine
13	chr15:42898400-42932800	Weak transcription	Esophagus	oesophagus
14	chr15:42898600-42909800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:42898600-42929800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:42898800-42903600	Weak transcription	Aorta	Aorta
17	chr15:42900400-42903600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr15:42900600-42903600	Weak transcription	Right Ventricle	heart
19	chr15:42900600-42903600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr15:42900600-42909600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:42900600-42909600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr15:42900600-42928000	Weak transcription	Placenta	Placenta
23	chr15:42900600-42930000	Weak transcription	HMEC	breast
24	chr15:42900800-42910000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:42900800-42914600	Weak transcription	HUVEC	blood vessel
26	chr15:42900800-42929800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr15:42901000-42902400	Weak transcription	K562	blood
28	chr15:42901000-42903200	Strong transcription	Fetal Stomach	stomach
29	chr15:42901000-42903400	Enhancers	Primary hematopoietic stem cells	blood
30	chr15:42901000-42921200	Weak transcription	NHDF-Ad	bronchial
31	chr15:42901000-42927800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr15:42901200-42902400	Weak transcription	NHLF	lung
33	chr15:42901200-42903800	Weak transcription	Fetal Lung	lung
34	chr15:42901200-42904000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr15:42901200-42909600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr15:42901400-42902400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr15:42901400-42905800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr15:42901400-42911800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr15:42901400-42928400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr15:42901400-42929800	Weak transcription	Brain Angular Gyrus	brain
41	chr15:42901600-42902400	Weak transcription	Right Atrium	heart
42	chr15:42901600-42903600	Weak transcription	Brain Substantia Nigra	brain
43	chr15:42901600-42903600	Weak transcription	Colon Smooth Muscle	Colon
44	chr15:42901600-42903600	Weak transcription	Fetal Heart	heart
45	chr15:42901600-42903600	Weak transcription	GM12878-XiMat	blood
46	chr15:42901600-42903800	Weak transcription	Left Ventricle	heart
47	chr15:42901600-42905000	Weak transcription	Thymus	Thymus
48	chr15:42901600-42905600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:42901600-42906400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr15:42901600-42927800	Weak transcription	Adipose Nuclei	Adipose

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