Variant report

Variant	rs2284753
Chromosome Location	chrX:77371470-77371471
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:77369235..77371974-chrX:77374980..77376660,2	MCF-7	breast:
2	chrX:77370475..77372341-chrX:77392890..77395727,2	K562	blood:

Variant related genes	Relation type
ENSG00000187325	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs320991	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs321007	0.88[ASW][hapmap];0.82[CEU][hapmap];0.88[CHB][hapmap];0.94[GIH][hapmap];0.93[JPT][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	nsv529299	chrX:77040316-77947157	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv532880	chrX:77085352-77769755	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:77361000-77382400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chrX:77361800-77394400	Weak transcription	Fetal Brain Male	brain
3	chrX:77362200-77372600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chrX:77362200-77394200	Weak transcription	Fetal Brain Female	brain
5	chrX:77362200-77394400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chrX:77363800-77372600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chrX:77364000-77373800	Weak transcription	NHEK	skin
8	chrX:77364000-77380200	Weak transcription	Small Intestine	intestine
9	chrX:77364800-77385000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chrX:77365000-77385600	Strong transcription	Fetal Thymus	thymus
11	chrX:77365200-77371800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chrX:77365200-77374200	Strong transcription	Primary B cells from peripheral blood	blood
13	chrX:77365200-77384400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chrX:77365200-77386000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chrX:77365200-77386200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chrX:77365200-77389200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chrX:77365600-77371600	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chrX:77365600-77371600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chrX:77365600-77389000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chrX:77365600-77394200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chrX:77366000-77372600	Strong transcription	HUVEC	blood vessel
22	chrX:77366000-77385800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chrX:77366200-77372800	Genic enhancers	HepG2	liver
24	chrX:77366200-77383000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chrX:77366200-77383400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chrX:77366200-77385000	Strong transcription	Placenta	Placenta
27	chrX:77366600-77373600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
28	chrX:77366600-77375400	Strong transcription	Fetal Muscle Leg	muscle
29	chrX:77366600-77381200	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chrX:77366600-77381600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chrX:77366600-77383200	Strong transcription	H1 Cell Line	embryonic stem cell
32	chrX:77366800-77375000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chrX:77366800-77377800	Strong transcription	HMEC	breast
34	chrX:77366800-77385600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chrX:77367000-77372800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
36	chrX:77367000-77379000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chrX:77367000-77383600	Strong transcription	Stomach Smooth Muscle	stomach
38	chrX:77367200-77372200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chrX:77367200-77386000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chrX:77367200-77386600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chrX:77367200-77390200	Strong transcription	A549	lung
42	chrX:77367200-77390400	Strong transcription	Adipose Nuclei	Adipose
43	chrX:77367200-77394400	Weak transcription	Psoas Muscle	Psoas
44	chrX:77367600-77374600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chrX:77367600-77385000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chrX:77367800-77372800	Weak transcription	NHLF	lung
47	chrX:77367800-77384000	Strong transcription	Hela-S3	cervix
48	chrX:77368000-77377400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chrX:77368200-77372800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chrX:77368200-77373200	Strong transcription	H9 Cell Line	embryonic stem cell

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