Variant report

Variant	rs199817275
Chromosome Location	chrX:153664249-153664250
allele	-/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chrX:153661478-153664565	K562	blood:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:153601346..153604087-chrX:153662858..153664785,2	MCF-7	breast:
2	chrX:153596589..153600122-chrX:153663177..153666593,6	K562	blood:
3	chrX:153662094..153664647-chrX:153718535..153720101,2	MCF-7	breast:
4	chrX:153639669..153642525-chrX:153662814..153665264,2	K562	blood:
5	X:153657611-153671976..X:153681712-153701576	Hela-S3	cervix:
6	X:153214268-153230257..X:153657611-153671976	H1-hESC	embryonic stem cell:	embryo
7	chrX:153636168..153639473-chrX:153663428..153667737,8	MCF-7	breast:
8	X:153625659-153635385..X:153657611-153671976	H1-hESC	embryonic stem cell:	embryo
9	X:153187063-153190397..X:153657611-153671976	H1-hESC	embryonic stem cell:	embryo
10	chrX:153663553..153666950-chrX:153742012..153745567,3	MCF-7	breast:
11	X:153657611-153671976..X:153967468-153979902	H1-hESC	embryonic stem cell:	embryo
12	X:153657611-153671976..X:153755323-153771683	Hela-S3	cervix:
13	chrX:153661960..153666485-chrX:153685751..153689252,6	K562	blood:
14	chrX:153595338..153600468-chrX:153664217..153668349,5	K562	blood:
15	chrX:153597446..153602147-chrX:153663095..153667390,6	MCF-7	breast:
16	X:153586280-153597086..X:153657611-153671976	H1-hESC	embryonic stem cell:	embryo
17	X:153657611-153671976..X:154015910-154019964	Hela-S3	cervix:
18	chrX:153625525..153632382-chrX:153663983..153668753,13	K562	blood:
19	chrX:153661692..153667668-chrX:153711020..153716574,8	MCF-7	breast:
20	X:153657611-153671976..X:153736289-153755323	Hela-S3	cervix:
21	chrX:153664219..153666172-chrX:153706574..153708655,2	MCF-7	breast:
22	X:153198557-153214268..X:153657611-153671976	Hela-S3	cervix:
23	X:153657611-153671976..X:153701576-153715648	Hela-S3	cervix:
24	X:153574513-153584637..X:153657611-153671976	H1-hESC	embryonic stem cell:	embryo
25	chrX:153625254..153633054-chrX:153663966..153667311,10	MCF-7	breast:

No data

Variant related genes	Relation type
GDI1	TF binding region
ENSG00000073009	Chromatin interaction
ENSG00000126903	Chromatin interaction
ENSG00000130827	Chromatin interaction
ENSG00000261773	Chromatin interaction
ENSG00000196976	Chromatin interaction
ENSG00000102030	Chromatin interaction
ENSG00000207165	Chromatin interaction
ENSG00000102032	Chromatin interaction
ENSG00000160211	Chromatin interaction
ENSG00000102178	Chromatin interaction
ENSG00000172534	Chromatin interaction
ENSG00000071889	Chromatin interaction
ENSG00000130830	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000196924	Chromatin interaction
ENSG00000089820	Chromatin interaction
ENSG00000160219	Chromatin interaction
ENSG00000013563	Chromatin interaction
ENSG00000102125	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33199	chrX:152864376-153820241	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	276 gene(s)	inside rSNPs	diseases
2	nsv528291	chrX:152864376-153827637	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	277 gene(s)	inside rSNPs	diseases
3	nsv915605	chrX:153333946-153783638	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	nsv519042	chrX:153348431-153829693	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
5	nsv532962	chrX:153564946-153870337	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	199 gene(s)	inside rSNPs	diseases
6	nsv532963	chrX:153576890-153822717	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	195 gene(s)	inside rSNPs	diseases
7	nsv530281	chrX:153622940-153783184	Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
8	nsv532964	chrX:153622940-153854307	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
9	esv3408138	chrX:153664208-153666531	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:153656400-153665000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
2	chrX:153658000-153664400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chrX:153658000-153664600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chrX:153658200-153664400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chrX:153658200-153664400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chrX:153658200-153664400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chrX:153658200-153664800	Weak transcription	Rectal Smooth Muscle	rectum
8	chrX:153658200-153664800	Weak transcription	HMEC	breast
9	chrX:153658200-153665200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chrX:153658400-153664600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chrX:153658400-153664600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chrX:153658400-153664600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chrX:153658400-153664600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chrX:153658400-153664800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chrX:153658400-153664800	Weak transcription	Psoas Muscle	Psoas
16	chrX:153658400-153665600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chrX:153658600-153664600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chrX:153658600-153665000	ZNF genes & repeats	Fetal Stomach	stomach
19	chrX:153658800-153664600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chrX:153659000-153664400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chrX:153659200-153664400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chrX:153659200-153664800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chrX:153659200-153665000	ZNF genes & repeats	Fetal Brain Female	brain
24	chrX:153659400-153664400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chrX:153659400-153664400	Weak transcription	Fetal Heart	heart
26	chrX:153659400-153664400	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chrX:153659400-153664800	Weak transcription	Fetal Kidney	kidney
28	chrX:153659400-153664800	Weak transcription	Right Atrium	heart
29	chrX:153659400-153665000	Weak transcription	Hela-S3	cervix
30	chrX:153659400-153665000	Weak transcription	HepG2	liver
31	chrX:153659600-153664400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chrX:153659600-153664600	Weak transcription	Brain Angular Gyrus	brain
33	chrX:153659600-153664600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chrX:153659600-153666000	Weak transcription	Stomach Mucosa	stomach
35	chrX:153659800-153664400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chrX:153659800-153664400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chrX:153659800-153664400	Strong transcription	Fetal Thymus	thymus
38	chrX:153659800-153664600	Weak transcription	GM12878-XiMat	blood
39	chrX:153659800-153664600	Weak transcription	HUVEC	blood vessel
40	chrX:153660000-153664400	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chrX:153660000-153664400	Strong transcription	Adipose Nuclei	Adipose
42	chrX:153660000-153664400	Strong transcription	Brain Hippocampus Middle	brain
43	chrX:153660000-153664400	Strong transcription	Left Ventricle	heart
44	chrX:153660000-153664400	Strong transcription	Pancreas	Pancrea
45	chrX:153660000-153664400	Strong transcription	Right Ventricle	heart
46	chrX:153660000-153664600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chrX:153660000-153664600	Strong transcription	Fetal Intestine Small	intestine
48	chrX:153660200-153664400	Strong transcription	Liver	Liver
49	chrX:153660200-153664400	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chrX:153660200-153664400	Strong transcription	Duodenum Mucosa	Duodenum

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