Variant report

Variant	rs9550483
Chromosome Location	chr13:30160070-30160071
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30157813..30160720-chr13:30181026..30182667,2	K562	blood:
2	chr13:30156184..30157693-chr13:30157838..30160325,2	MCF-7	breast:
3	chr13:30154508..30157101-chr13:30157805..30160613,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2137395	0.85[ASN][1000 genomes]
rs476506	0.82[ASN][1000 genomes]
rs579451	0.89[ASN][1000 genomes]
rs7991883	0.82[ASN][1000 genomes]
rs9506206	0.85[ASN][1000 genomes]
rs9508499	0.85[ASN][1000 genomes]
rs9551699	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9551700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9551701	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[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	nsv979	chr13:30122254-30167821	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30126000-30161400	Weak transcription	Primary B cells from cord blood	blood
2	chr13:30128000-30163600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr13:30128600-30161800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr13:30128800-30168200	Weak transcription	Primary T cells from cord blood	blood
5	chr13:30147200-30163200	Weak transcription	Fetal Intestine Small	intestine
6	chr13:30147800-30163600	Weak transcription	Thymus	Thymus
7	chr13:30148400-30160400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr13:30148400-30167400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr13:30148600-30160800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr13:30152400-30163200	Weak transcription	Spleen	Spleen
11	chr13:30152600-30168200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:30153000-30160800	Weak transcription	HUVEC	blood vessel
13	chr13:30153000-30161200	Weak transcription	Aorta	Aorta
14	chr13:30153200-30161000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr13:30153600-30163200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr13:30154600-30160600	Weak transcription	Dnd41	blood
17	chr13:30154600-30163400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:30155800-30161400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:30156000-30163600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr13:30156200-30160200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr13:30156400-30161000	Weak transcription	Fetal Stomach	stomach
22	chr13:30156400-30164000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:30156400-30168400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr13:30156600-30161800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr13:30156600-30163000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:30156600-30163400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr13:30156600-30164000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr13:30156800-30161600	Weak transcription	Colon Smooth Muscle	Colon
29	chr13:30156800-30163400	Weak transcription	Fetal Muscle Leg	muscle
30	chr13:30156800-30168200	Weak transcription	Fetal Brain Female	brain
31	chr13:30156800-30168400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr13:30157000-30164000	Weak transcription	Brain Hippocampus Middle	brain
33	chr13:30157200-30161400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr13:30157200-30161600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr13:30157200-30163000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr13:30157200-30168400	Weak transcription	Brain Germinal Matrix	brain
37	chr13:30157400-30163600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr13:30157600-30160800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr13:30157600-30163200	Weak transcription	Right Ventricle	heart
40	chr13:30157600-30163400	Weak transcription	HSMMtube	muscle
41	chr13:30157600-30163800	Weak transcription	Right Atrium	heart
42	chr13:30157600-30166000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr13:30157600-30168200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr13:30157600-30168200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr13:30157800-30160200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr13:30157800-30161600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr13:30157800-30161600	Weak transcription	Esophagus	oesophagus
48	chr13:30157800-30161800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr13:30157800-30161800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr13:30157800-30162600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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