Variant report

Variant	rs2038285
Chromosome Location	chrX:64725338-64725339
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:64724361..64726793-chrX:64727784..64730383,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12395545	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs12395619	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs12397033	1.00[ASW][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs16989666	1.00[MEX][hapmap]
rs2038284	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap]
rs5964442	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap]
rs5964443	0.91[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs5964981	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs5964989	1.00[GIH][hapmap]
rs5964990	1.00[GIH][hapmap]
rs5964999	1.00[ASW][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap]
rs5965003	1.00[MEX][hapmap]
rs6524979	0.83[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap]
rs6524991	1.00[MEX][hapmap]
rs6624783	1.00[MEX][hapmap]
rs6653146	1.00[YRI][hapmap]
rs7050592	1.00[ASW][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap]
rs7051717	1.00[ASW][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap]
rs7065069	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs926806	1.00[YRI][hapmap]
rs959215	1.00[GIH][hapmap]

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	nsv817451	chrX:64049597-64916072	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:64694400-64732000	Weak transcription	Aorta	Aorta
2	chrX:64713800-64726000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chrX:64717400-64728600	Weak transcription	Primary T cells from cord blood	blood
4	chrX:64717400-64731200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chrX:64718800-64731200	Weak transcription	Thymus	Thymus
6	chrX:64719800-64731800	Weak transcription	Brain Hippocampus Middle	brain
7	chrX:64720000-64727200	Weak transcription	Dnd41	blood
8	chrX:64720000-64741200	Weak transcription	Fetal Kidney	kidney
9	chrX:64720400-64735400	Weak transcription	Brain Angular Gyrus	brain
10	chrX:64721200-64733800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chrX:64721200-64736200	Weak transcription	Brain Substantia Nigra	brain
12	chrX:64721400-64741800	Weak transcription	Colonic Mucosa	Colon
13	chrX:64722000-64728400	Weak transcription	Fetal Intestine Large	intestine
14	chrX:64722000-64740400	Weak transcription	Pancreas	Pancrea
15	chrX:64722200-64731400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chrX:64722600-64727800	Weak transcription	Fetal Stomach	stomach
17	chrX:64722800-64732000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chrX:64722800-64734400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chrX:64723000-64728600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chrX:64723000-64731400	Weak transcription	Left Ventricle	heart
21	chrX:64723200-64728200	Weak transcription	Fetal Intestine Small	intestine
22	chrX:64723400-64727600	Weak transcription	Primary B cells from peripheral blood	blood
23	chrX:64723400-64728200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chrX:64723400-64729000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chrX:64723400-64732200	Weak transcription	Right Ventricle	heart
26	chrX:64723400-64741600	Weak transcription	Primary hematopoietic stem cells	blood
27	chrX:64723800-64732000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chrX:64723800-64736200	Weak transcription	K562	blood
29	chrX:64724000-64726600	Weak transcription	A549	lung
30	chrX:64724000-64729000	Weak transcription	Duodenum Mucosa	Duodenum
31	chrX:64724000-64740600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chrX:64724200-64729000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chrX:64724200-64732800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chrX:64724400-64727200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chrX:64724400-64731200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chrX:64724600-64731600	Weak transcription	Primary T cells fromperipheralblood	blood
37	chrX:64724800-64727400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chrX:64724800-64728400	Weak transcription	Placenta	Placenta
39	chrX:64725000-64737400	Weak transcription	NH-A	brain
40	chrX:64725200-64725600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chrX:64725200-64728200	Weak transcription	Stomach Smooth Muscle	stomach
42	chrX:64725200-64728400	Weak transcription	Fetal Thymus	thymus

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