Variant report

Variant	rs1894467
Chromosome Location	chrX:138285103-138285104
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:138273663..138275580-chrX:138283129..138285298,2	K562	blood:
2	chrX:138282011..138285172-chrX:138285245..138287356,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129682	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525867	chrX:137580983-138439843	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv533984	chrX:137938683-138556308	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv532935	chrX:138281469-138764448	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv3346694	chrX:138283686-138289084	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3447668	chrX:138284786-138286884	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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:138277400-138285200	Weak transcription	Pancreas	Pancrea
2	chrX:138277600-138285400	Weak transcription	Liver	Liver
3	chrX:138277600-138286000	Weak transcription	Right Atrium	heart
4	chrX:138282800-138285400	Weak transcription	Esophagus	oesophagus
5	chrX:138283000-138288600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chrX:138284400-138285200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chrX:138284400-138285400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chrX:138284400-138287800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chrX:138284400-138288400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chrX:138284600-138285200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chrX:138284600-138285200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
12	chrX:138284600-138285200	Flanking Active TSS	Brain Germinal Matrix	brain
13	chrX:138284600-138286400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chrX:138284600-138287800	Bivalent/Poised TSS	Fetal Brain Female	brain
15	chrX:138284600-138288000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
16	chrX:138284600-138288200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chrX:138284600-138288600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chrX:138284600-138288800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chrX:138284600-138288800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chrX:138284800-138285200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chrX:138284800-138285200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chrX:138284800-138285200	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chrX:138284800-138285400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
24	chrX:138284800-138286000	Bivalent/Poised TSS	Placenta	Placenta
25	chrX:138284800-138287800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chrX:138284800-138287800	Active TSS	K562	blood
27	chrX:138284800-138288000	Active TSS	Psoas Muscle	Psoas
28	chrX:138284800-138288400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chrX:138284800-138288600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chrX:138285000-138285200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
31	chrX:138285000-138285200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chrX:138285000-138285200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
33	chrX:138285000-138285200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chrX:138285000-138285200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chrX:138285000-138285200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
36	chrX:138285000-138285200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
37	chrX:138285000-138285200	Bivalent/Poised TSS	Fetal Brain Male	brain
38	chrX:138285000-138285200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
39	chrX:138285000-138285200	Enhancers	NHDF-Ad	bronchial
40	chrX:138285000-138285400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chrX:138285000-138285400	Flanking Active TSS	Gastric	stomach
42	chrX:138285000-138285400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
43	chrX:138285000-138285600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
44	chrX:138285000-138285800	Enhancers	Primary hematopoietic stem cells	blood
45	chrX:138285000-138285800	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chrX:138285000-138285800	Weak transcription	HSMMtube	muscle
47	chrX:138285000-138286200	Enhancers	Spleen	Spleen
48	chrX:138285000-138286400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chrX:138285000-138287400	Active TSS	NH-A	brain
50	chrX:138285000-138287800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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