Variant report

Variant	rs139014998
Chromosome Location	chrX:153716144-153716145
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chrX:153715688-153716307	K562	blood:	n/a	n/a
2	POLR2A	chrX:153715697-153716378	HepG2	liver:	n/a	n/a

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:153711098..153721097-chrX:153740825..153747830,28	MCF-7	breast:
2	chrX:153715077..153717508-chrX:153733605..153735142,2	K562	blood:
3	chrX:153711537..153716459-chrX:153767417..153772470,5	K562	blood:
4	chrX:153712862..153716379-chrX:153773449..153776383,5	MCF-7	breast:
5	chrX:153605453..153609525-chrX:153712051..153716179,6	MCF-7	breast:
6	chrX:153605593..153609893-chrX:153711571..153716768,6	K562	blood:
7	chrX:153624545..153632466-chrX:153709449..153721332,27	K562	blood:
8	chrX:153713288..153721499-chrX:153767815..153773161,10	MCF-7	breast:
9	chrX:153648825..153650484-chrX:153715123..153717815,2	MCF-7	breast:
10	chrX:153691004..153695395-chrX:153711545..153717567,7	MCF-7	breast:
11	chrX:153624383..153633652-chrX:153704408..153721325,48	MCF-7	breast:
12	chrX:153624542..153632362-chrX:153710560..153721332,23	K562	blood:
13	chrX:153711592..153716888-chrX:153760694..153766504,10	MCF-7	breast:
14	chrX:153713355..153716352-chrX:153738180..153740001,2	K562	blood:
15	chrX:153598007..153604368-chrX:153709391..153720590,15	MCF-7	breast:
16	chrX:153711607..153725784-chrX:153738770..153748754,27	K562	blood:
17	chrX:153714637..153717614-chrX:153774027..153776587,2	K562	blood:
18	chrX:153711367..153718079-chrX:153742298..153748484,13	K562	blood:
19	chrX:153596460..153601893-chrX:153713560..153721410,16	MCF-7	breast:
20	chrX:153684734..153690386-chrX:153710045..153718317,11	K562	blood:
21	chrX:153661692..153667668-chrX:153711020..153716574,8	MCF-7	breast:
22	chrX:153669908..153672690-chrX:153713868..153717711,4	MCF-7	breast:
23	chrX:153713080..153721291-chrX:153722442..153727868,15	K562	blood:
24	chrX:153684737..153690252-chrX:153712522..153716734,15	MCF-7	breast:
25	chrX:153237789..153240120-chrX:153715311..153716819,2	MCF-7	breast:
26	chrX:153234477..153236480-chrX:153714089..153717072,2	K562	blood:
27	chrX:153601928..153604764-chrX:153713001..153716367,3	MCF-7	breast:
28	chrX:153639079..153641453-chrX:153714284..153716430,2	K562	blood:

No data

Variant related genes	Relation type
UBL4A	TF binding region
ENSG00000013563	Chromatin interaction
ENSG00000264484	Chromatin interaction
ENSG00000160211	Chromatin interaction
ENSG00000071889	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000071859	Chromatin interaction
ENSG00000203879	Chromatin interaction
ENSG00000102125	Chromatin interaction
ENSG00000264783	Chromatin interaction
ENSG00000073009	Chromatin interaction
ENSG00000235802	Chromatin interaction
ENSG00000177854	Chromatin interaction
ENSG00000207165	Chromatin interaction
ENSG00000261773	Chromatin interaction
ENSG00000264631	Chromatin interaction
ENSG00000102119	Chromatin interaction
ENSG00000130827	Chromatin interaction
ENSG00000196924	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	esv3433124	chrX:153714108-153716206	Flanking Active TSS Genic enhancers Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:153710200-153719600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chrX:153711400-153718600	ZNF genes & repeats	Fetal Stomach	stomach
3	chrX:153714200-153716200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chrX:153714600-153717800	Weak transcription	Primary T cells from cord blood	blood
5	chrX:153714800-153717600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chrX:153714800-153718000	Weak transcription	Fetal Kidney	kidney
7	chrX:153715200-153716400	Enhancers	Fetal Brain Male	brain
8	chrX:153715400-153716200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chrX:153715400-153716200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chrX:153715400-153716600	ZNF genes & repeats	NHEK	skin
11	chrX:153715400-153717400	Weak transcription	Brain Cingulate Gyrus	brain
12	chrX:153715400-153717400	Weak transcription	NHDF-Ad	bronchial
13	chrX:153715400-153717600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chrX:153715400-153717600	Weak transcription	Brain Substantia Nigra	brain
15	chrX:153715400-153717600	Weak transcription	Fetal Lung	lung
16	chrX:153715400-153717800	Weak transcription	Colon Smooth Muscle	Colon
17	chrX:153715400-153718000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chrX:153715400-153718000	Weak transcription	Aorta	Aorta
19	chrX:153715400-153718000	Weak transcription	Small Intestine	intestine
20	chrX:153715400-153718000	Weak transcription	HSMMtube	muscle
21	chrX:153715600-153716200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chrX:153715600-153716200	Genic enhancers	Primary B cells from peripheral blood	blood
23	chrX:153715600-153716200	Enhancers	Primary T cells fromperipheralblood	blood
24	chrX:153715600-153716200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chrX:153715600-153716200	Enhancers	Brain Hippocampus Middle	brain
26	chrX:153715600-153716200	Genic enhancers	Fetal Muscle Leg	muscle
27	chrX:153715600-153716200	Enhancers	K562	blood
28	chrX:153715600-153716400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chrX:153715600-153716400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chrX:153715600-153716600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chrX:153715600-153716800	ZNF genes & repeats	Fetal Thymus	thymus
32	chrX:153715600-153717000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chrX:153715600-153717000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chrX:153715600-153717000	Weak transcription	Stomach Mucosa	stomach
35	chrX:153715600-153717000	Weak transcription	HMEC	breast
36	chrX:153715600-153717200	Weak transcription	Adipose Nuclei	Adipose
37	chrX:153715600-153717200	Weak transcription	Brain Angular Gyrus	brain
38	chrX:153715600-153717200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chrX:153715600-153717400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chrX:153715600-153717400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
41	chrX:153715600-153717400	Weak transcription	Left Ventricle	heart
42	chrX:153715600-153717400	Weak transcription	Thymus	Thymus
43	chrX:153715600-153717400	Weak transcription	Osteobl	bone
44	chrX:153715600-153717600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chrX:153715600-153717600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chrX:153715600-153717600	Weak transcription	Brain Germinal Matrix	brain
47	chrX:153715600-153717600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chrX:153715600-153717600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chrX:153715600-153717600	Weak transcription	HSMM	muscle
50	chrX:153715600-153717800	Weak transcription	H1 Cell Line	embryonic stem cell

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