Variant report

Variant	rs1751135
Chromosome Location	chrX:78621349-78621350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chrX:78621295-78621495	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:78615570..78618200-chrX:78620529..78622334,2	K562	blood:

Variant related genes	Relation type
ITM2A	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1736662	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs1751097	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs1751134	1.00[CEU][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3394349	chrX:77977388-78779139	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv932683	chrX:78373033-79166725	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv869186	chrX:78392001-79166725	Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv995120	chrX:78528055-78946146	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv519126	chrX:78586744-78629178	Strong transcription Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv529913	chrX:78605903-79090819	Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:78616800-78621600	Weak transcription	Brain Angular Gyrus	brain
2	chrX:78618000-78621800	Weak transcription	Left Ventricle	heart
3	chrX:78618600-78621400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chrX:78618600-78623200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
5	chrX:78618600-78623200	Active TSS	Primary T helper cells PMA-I stimulated	--
6	chrX:78618800-78623000	Active TSS	Primary T cells fromperipheralblood	blood
7	chrX:78618800-78623000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chrX:78619000-78623400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chrX:78619000-78623400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chrX:78619200-78622200	Active TSS	Fetal Muscle Leg	muscle
11	chrX:78619200-78623000	Active TSS	Fetal Thymus	thymus
12	chrX:78619200-78623400	Active TSS	Primary T cells from cord blood	blood
13	chrX:78619400-78623200	Active TSS	Primary T helper cells fromperipheralblood	blood
14	chrX:78619800-78621400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chrX:78619800-78623000	Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chrX:78619800-78623000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chrX:78619800-78623200	Active TSS	Right Atrium	heart
18	chrX:78619800-78623200	Active TSS	Thymus	Thymus
19	chrX:78620000-78623000	Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chrX:78620000-78623200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chrX:78620200-78621800	Weak transcription	Brain Substantia Nigra	brain
22	chrX:78620200-78623000	Active TSS	GM12878-XiMat	blood
23	chrX:78620600-78623000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chrX:78620600-78623400	Active TSS	K562	blood
25	chrX:78620800-78622200	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chrX:78620800-78622200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
27	chrX:78620800-78622200	Active TSS	Fetal Muscle Trunk	muscle
28	chrX:78620800-78622800	Active TSS	HMEC	breast
29	chrX:78620800-78623200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chrX:78620800-78623200	Active TSS	Duodenum Mucosa	Duodenum
31	chrX:78620800-78623200	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chrX:78620800-78623200	Bivalent/Poised TSS	Fetal Kidney	kidney
33	chrX:78620800-78623200	Active TSS	Right Ventricle	heart
34	chrX:78620800-78623400	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chrX:78621000-78622000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chrX:78621000-78622000	Active TSS	Fetal Stomach	stomach
37	chrX:78621000-78622800	Active TSS	NHEK	skin
38	chrX:78621000-78623000	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chrX:78621000-78623200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chrX:78621000-78623200	Active TSS	Brain Hippocampus Middle	brain
41	chrX:78621000-78623200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chrX:78621000-78623200	Active TSS	Psoas Muscle	Psoas
43	chrX:78621000-78623200	Active TSS	Rectal Mucosa Donor 29	rectum
44	chrX:78621000-78623400	Active TSS	Primary hematopoietic stem cells	blood
45	chrX:78621200-78621600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chrX:78621200-78622800	Active TSS	Brain Inferior Temporal Lobe	brain
47	chrX:78621200-78623000	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chrX:78621200-78623600	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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