Variant report

Variant	rs1472396
Chromosome Location	chrX:74374731-74374732
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:576620..578202-chrX:74374249..74376331,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000103326	Chromatin interaction

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

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

rs_ID	r²[population]
rs1340989	0.98[MKK][hapmap]
rs1340990	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs1361702	0.98[MKK][hapmap]
rs1566126	0.98[MKK][hapmap]
rs4892392	0.98[MKK][hapmap]
rs5937330	1.00[MEX][hapmap]
rs5937962	0.98[MKK][hapmap]
rs5937966	0.95[YRI][hapmap]
rs5981325	0.98[MKK][hapmap]
rs5981761	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs5981784	0.98[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	esv3365132	chrX:74308852-74407212	Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv534085	chrX:74360310-74516106	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:74352000-74375200	Weak transcription	Right Ventricle	heart
2	chrX:74359800-74374800	Weak transcription	Fetal Intestine Large	intestine
3	chrX:74365600-74375000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chrX:74365800-74375200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chrX:74367400-74375200	Weak transcription	Fetal Lung	lung
6	chrX:74367600-74375200	Weak transcription	Ovary	ovary
7	chrX:74368400-74375400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chrX:74371400-74374800	Weak transcription	HSMM	muscle
9	chrX:74372000-74374800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chrX:74372200-74375200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chrX:74372400-74375200	Weak transcription	HSMMtube	muscle
12	chrX:74372600-74374800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chrX:74373000-74375200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chrX:74373800-74374800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chrX:74373800-74374800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chrX:74373800-74375200	Enhancers	Fetal Intestine Small	intestine
17	chrX:74373800-74377200	Active TSS	GM12878-XiMat	blood
18	chrX:74374000-74374800	Enhancers	Primary B cells from cord blood	blood
19	chrX:74374000-74374800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chrX:74374000-74374800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chrX:74374000-74375200	Enhancers	Hela-S3	cervix
22	chrX:74374000-74375400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chrX:74374000-74375400	Flanking Active TSS	Dnd41	blood
24	chrX:74374000-74376800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chrX:74374200-74374800	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chrX:74374200-74374800	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chrX:74374200-74375200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chrX:74374200-74375200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chrX:74374200-74375200	Enhancers	Muscle Satellite Cultured Cells	--
30	chrX:74374200-74375200	Enhancers	Liver	Liver
31	chrX:74374200-74375400	Enhancers	Adipose Nuclei	Adipose
32	chrX:74374200-74377000	Active TSS	K562	blood
33	chrX:74374400-74374800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chrX:74374400-74374800	Enhancers	Stomach Mucosa	stomach
35	chrX:74374400-74374800	Enhancers	A549	lung
36	chrX:74374400-74375000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chrX:74374400-74375000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chrX:74374400-74375000	Enhancers	Brain Anterior Caudate	brain
39	chrX:74374400-74375000	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chrX:74374400-74375000	Enhancers	Rectal Mucosa Donor 31	rectum
41	chrX:74374400-74375200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chrX:74374400-74375200	Enhancers	Primary monocytes fromperipheralblood	blood
43	chrX:74374400-74375200	Enhancers	Primary B cells from peripheral blood	blood
44	chrX:74374400-74375200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chrX:74374400-74375200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chrX:74374400-74375200	Enhancers	Brain Cingulate Gyrus	brain
47	chrX:74374400-74375200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chrX:74374400-74375200	Enhancers	Fetal Heart	heart
49	chrX:74374400-74375200	Bivalent Enhancer	Fetal Kidney	kidney
50	chrX:74374400-74375400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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