Variant report

Variant	rs5981318
Chromosome Location	chrX:74292139-74292140
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10482116	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs5981315	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs5981319	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs5981759	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs5981781	1.00[YRI][hapmap]
rs5981800	1.00[YRI][hapmap]
rs6647083	1.00[MEX][hapmap];1.00[MKK][hapmap]
rs6647614	1.00[MEX][hapmap];1.00[MKK][hapmap]
rs6655627	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:74265400-74295400	Weak transcription	Fetal Heart	heart
2	chrX:74265600-74294400	Weak transcription	Brain Substantia Nigra	brain
3	chrX:74265600-74296000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chrX:74265800-74294400	Weak transcription	Primary T cells from cord blood	blood
5	chrX:74265800-74316600	Weak transcription	Primary hematopoietic stem cells	blood
6	chrX:74266000-74303200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chrX:74266200-74304800	Weak transcription	GM12878-XiMat	blood
8	chrX:74266600-74295000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chrX:74266800-74296600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chrX:74267200-74296200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chrX:74268000-74294400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chrX:74268000-74298000	Weak transcription	A549	lung
13	chrX:74268000-74302400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chrX:74270400-74317200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chrX:74272000-74294400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chrX:74275800-74297600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chrX:74277200-74295200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chrX:74277400-74296400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chrX:74278600-74296000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chrX:74280400-74295800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chrX:74281200-74297000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chrX:74281800-74295800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chrX:74282000-74292800	Weak transcription	Fetal Lung	lung
24	chrX:74282000-74294400	Weak transcription	Adipose Nuclei	Adipose
25	chrX:74282000-74294800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chrX:74283800-74295200	Weak transcription	Brain Germinal Matrix	brain
27	chrX:74286000-74294000	Weak transcription	Esophagus	oesophagus
28	chrX:74286600-74306600	Weak transcription	Small Intestine	intestine
29	chrX:74287600-74294800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chrX:74288000-74293400	Weak transcription	Thymus	Thymus
31	chrX:74288200-74295000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chrX:74288800-74295800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chrX:74288800-74297200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chrX:74288800-74306400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chrX:74289000-74293200	Weak transcription	Primary B cells from peripheral blood	blood
36	chrX:74289400-74293000	Weak transcription	Fetal Intestine Large	intestine
37	chrX:74289400-74294800	Weak transcription	Placenta	Placenta
38	chrX:74289600-74295800	Weak transcription	Left Ventricle	heart
39	chrX:74289600-74296400	Weak transcription	Stomach Smooth Muscle	stomach
40	chrX:74289800-74299000	Weak transcription	Liver	Liver
41	chrX:74290000-74297400	Weak transcription	Hela-S3	cervix
42	chrX:74290400-74293000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chrX:74290400-74293000	Weak transcription	Dnd41	blood
44	chrX:74290400-74293000	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chrX:74290400-74293200	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chrX:74290400-74293800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chrX:74290400-74297000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chrX:74290600-74293400	Weak transcription	Duodenum Mucosa	Duodenum
49	chrX:74290600-74295600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chrX:74292000-74293800	Strong transcription	Primary T helper cells PMA-I stimulated	--

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