Variant report

Variant	rs2223446
Chromosome Location	chrX:65415555-65415556
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:65415053-65415620	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:65408173..65411211-chrX:65412672..65415962,4	K562	blood:
2	chrX:65414620..65416945-chrX:65419013..65421132,2	K562	blood:

Variant related genes	Relation type
HEPH	TF binding region
ENSG00000089472	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs5964501	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap]
rs7052942	0.89[ASW][hapmap];0.80[YRI][hapmap]
rs7059116	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][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	esv3429625	chrX:64787230-65458721	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv995042	chrX:65121634-65953299	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv916393	chrX:65269672-65521616	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3350331	chrX:65287003-65495627	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:65383600-65442200	Weak transcription	Small Intestine	intestine
2	chrX:65384600-65435600	Weak transcription	Left Ventricle	heart
3	chrX:65385600-65435600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chrX:65387600-65435400	Weak transcription	Aorta	Aorta
5	chrX:65388200-65417200	Weak transcription	Colonic Mucosa	Colon
6	chrX:65393800-65419600	Weak transcription	Fetal Intestine Small	intestine
7	chrX:65393800-65428000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chrX:65396000-65428000	Weak transcription	Ovary	ovary
9	chrX:65400400-65430600	Weak transcription	Fetal Heart	heart
10	chrX:65402600-65415800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chrX:65406200-65422000	Weak transcription	Fetal Kidney	kidney
12	chrX:65406400-65416400	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chrX:65407000-65448000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chrX:65407600-65422400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chrX:65408000-65418400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chrX:65408200-65419600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chrX:65408200-65420000	Weak transcription	Brain Angular Gyrus	brain
18	chrX:65408200-65420200	Weak transcription	Brain Cingulate Gyrus	brain
19	chrX:65408400-65430800	Weak transcription	NH-A	brain
20	chrX:65408400-65436000	Weak transcription	Brain Substantia Nigra	brain
21	chrX:65408800-65420200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chrX:65409800-65422800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chrX:65411800-65432000	Weak transcription	Colon Smooth Muscle	Colon
24	chrX:65412000-65427400	Weak transcription	Fetal Lung	lung
25	chrX:65412200-65417600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chrX:65412200-65420200	Weak transcription	Rectal Smooth Muscle	rectum
27	chrX:65412400-65417400	Weak transcription	Fetal Stomach	stomach
28	chrX:65412600-65416000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chrX:65412800-65416000	Weak transcription	Duodenum Mucosa	Duodenum
30	chrX:65412800-65427000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chrX:65412800-65431000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chrX:65413000-65419800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chrX:65414000-65415800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chrX:65414400-65435400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chrX:65414600-65415800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chrX:65414600-65417600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chrX:65414600-65417800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chrX:65414800-65417400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chrX:65415000-65415800	Strong transcription	Stomach Smooth Muscle	stomach
40	chrX:65415000-65417400	Weak transcription	Fetal Intestine Large	intestine
41	chrX:65415000-65418200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chrX:65415000-65419800	Weak transcription	Dnd41	blood
43	chrX:65415000-65435600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chrX:65415200-65417400	Weak transcription	K562	blood
45	chrX:65415200-65428000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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