Variant report

Variant	rs1340990
Chromosome Location	chrX:74284996-74284997
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1340989	0.98[MKK][hapmap]
rs1361702	0.98[MKK][hapmap]
rs1472396	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs1566126	0.98[MKK][hapmap]
rs2676492	0.98[MKK][hapmap]
rs4892392	0.98[MKK][hapmap]
rs5937962	0.98[MKK][hapmap]
rs5937966	0.95[YRI][hapmap]
rs5981325	0.98[MKK][hapmap]
rs5981761	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs5981784	0.98[MKK][hapmap]

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	nsv916758	chrX:73546406-74420929	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv531128	chrX:74232814-74416887	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:74263800-74286400	Weak transcription	Psoas Muscle	Psoas
2	chrX:74265400-74295400	Weak transcription	Fetal Heart	heart
3	chrX:74265600-74286800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chrX:74265600-74291400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chrX:74265600-74294400	Weak transcription	Brain Substantia Nigra	brain
6	chrX:74265600-74296000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chrX:74265800-74287200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chrX:74265800-74288800	Weak transcription	Left Ventricle	heart
9	chrX:74265800-74294400	Weak transcription	Primary T cells from cord blood	blood
10	chrX:74265800-74316600	Weak transcription	Primary hematopoietic stem cells	blood
11	chrX:74266000-74291800	Weak transcription	Primary B cells from cord blood	blood
12	chrX:74266000-74303200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chrX:74266200-74304800	Weak transcription	GM12878-XiMat	blood
14	chrX:74266600-74295000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chrX:74266800-74288600	Weak transcription	Duodenum Mucosa	Duodenum
16	chrX:74266800-74296600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chrX:74267200-74291200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chrX:74267200-74296200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chrX:74267400-74288800	Weak transcription	Fetal Intestine Large	intestine
20	chrX:74267600-74289000	Weak transcription	Fetal Brain Female	brain
21	chrX:74268000-74294400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chrX:74268000-74298000	Weak transcription	A549	lung
23	chrX:74268000-74302400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chrX:74268400-74287600	Weak transcription	Liver	Liver
25	chrX:74268600-74291200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chrX:74270000-74291800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chrX:74270400-74317200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chrX:74271000-74288800	Weak transcription	Stomach Smooth Muscle	stomach
29	chrX:74271000-74290800	Weak transcription	Fetal Intestine Small	intestine
30	chrX:74271200-74289200	Weak transcription	Hela-S3	cervix
31	chrX:74272000-74294400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chrX:74273600-74288800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chrX:74275800-74297600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chrX:74276000-74287000	Weak transcription	Primary B cells from peripheral blood	blood
35	chrX:74276400-74289000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chrX:74276600-74289200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chrX:74277200-74295200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chrX:74277400-74296400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chrX:74278000-74291200	Weak transcription	Fetal Stomach	stomach
40	chrX:74278400-74288800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chrX:74278600-74296000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chrX:74278800-74289800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chrX:74280000-74289600	Weak transcription	Brain Angular Gyrus	brain
44	chrX:74280400-74288800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chrX:74280400-74295800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chrX:74280600-74288400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chrX:74281200-74297000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chrX:74281600-74288600	Weak transcription	Placenta	Placenta
49	chrX:74281800-74288200	Weak transcription	Dnd41	blood
50	chrX:74281800-74295800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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