Variant report

Variant	rs2250649
Chromosome Location	chr1:179276357-179276358
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:179262649..179264550-chr1:179273241..179276604,3	K562	blood:

Variant related genes	Relation type
ENSG00000057252	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16853696	0.82[YRI][hapmap]
rs2244569	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2244570	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2246677	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2248847	1.00[AFR][1000 genomes]
rs2250753	1.00[AMR][1000 genomes]
rs2251123	1.00[AFR][1000 genomes]
rs2254625	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2256282	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2484447	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2484448	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2493115	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6668333	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005278	chr1:179197645-179371395	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv990767	chr1:179270152-179277921	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179263800-179304600	Weak transcription	Lung	lung
2	chr1:179263800-179306400	Weak transcription	Gastric	stomach
3	chr1:179264000-179279600	Weak transcription	Fetal Brain Male	brain
4	chr1:179264200-179290200	Weak transcription	Aorta	Aorta
5	chr1:179264600-179278600	Weak transcription	Colonic Mucosa	Colon
6	chr1:179264600-179281200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:179264600-179292000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:179264600-179304600	Weak transcription	Right Ventricle	heart
9	chr1:179264600-179310200	Weak transcription	Brain Substantia Nigra	brain
10	chr1:179264600-179314000	Weak transcription	Brain Angular Gyrus	brain
11	chr1:179264600-179314000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:179264800-179276400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:179264800-179277800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:179264800-179278800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:179264800-179279400	Weak transcription	HSMMtube	muscle
16	chr1:179264800-179313800	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:179264800-179313800	Weak transcription	Fetal Brain Female	brain
18	chr1:179264800-179334200	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:179265400-179287600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:179266400-179286400	Weak transcription	Fetal Kidney	kidney
21	chr1:179266400-179322800	Weak transcription	Small Intestine	intestine
22	chr1:179267800-179287000	Weak transcription	Spleen	Spleen
23	chr1:179268400-179278200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:179268400-179280200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:179268400-179312000	Weak transcription	Fetal Thymus	thymus
26	chr1:179269600-179280000	Weak transcription	Thymus	Thymus
27	chr1:179270200-179283200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:179270400-179277600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr1:179271000-179279000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr1:179271200-179277600	Strong transcription	Liver	Liver
31	chr1:179271400-179276800	Strong transcription	Fetal Intestine Large	intestine
32	chr1:179271400-179277000	Strong transcription	Primary T cells from cord blood	blood
33	chr1:179271400-179277000	Strong transcription	Dnd41	blood
34	chr1:179271400-179277200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:179271400-179287600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:179271600-179277000	Strong transcription	Primary B cells from cord blood	blood
37	chr1:179271600-179278200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:179271600-179283800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:179271600-179286400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:179271800-179276800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:179271800-179277000	Strong transcription	Primary B cells from peripheral blood	blood
42	chr1:179271800-179277400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:179271800-179280200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:179271800-179287600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:179272000-179276600	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:179272000-179277200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:179272000-179284400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:179272000-179286000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:179272600-179288200	Weak transcription	Stomach Mucosa	stomach
50	chr1:179272600-179313800	Weak transcription	Brain Anterior Caudate	brain

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