Variant report

Variant	rs539222836
Chromosome Location	chr13:50699047-50699048
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:50698955..50699740-chr13:51085777..51086281,2	NB4	blood:
2	chr13:50696984..50702154-chr13:51483455..51488031,9	K562	blood:
3	chr13:50678670..50682437-chr13:50696050..50699691,4	K562	blood:
4	chr13:50676147..50677856-chr13:50697391..50699773,2	MCF-7	breast:
5	chr13:50652169..50667024-chr13:50693268..50703943,57	K562	blood:
6	chr13:50696202..50700492-chr13:50759152..50762847,4	K562	blood:
7	chr13:50568991..50573569-chr13:50697831..50701767,8	K562	blood:
8	chr13:50697681..50699849-chr13:50994691..50997532,2	K562	blood:
9	chr13:50569500..50573569-chr13:50696112..50701767,10	K562	blood:
10	chr13:50698611..50701082-chr13:51100302..51101813,2	MCF-7	breast:
11	chr13:50602746..50605620-chr13:50696752..50699195,2	K562	blood:
12	chr13:50696783..50699348-chr13:50762880..50765509,3	K562	blood:
13	chr13:50698913..50701877-chr17:56707826..56709440,2	MCF-7	breast:
14	chr13:50698329..50699059-chr18:48724159..48725070,2	NB4	blood:
15	chr13:50697643..50699321-chr13:50747140..50749271,2	K562	blood:
16	chr13:50697161..50699455-chr13:51219489..51221158,2	MCF-7	breast:
17	chr13:50697804..50699328-chr13:50929557..50931227,2	MCF-7	breast:
18	chr13:50698526..50701372-chr13:50933812..50935948,3	MCF-7	breast:
19	chr13:50698015..50701526-chr13:51100615..51103673,4	MCF-7	breast:
20	chr13:50654073..50663597-chr13:50696674..50702768,25	MCF-7	breast:
21	chr13:50697624..50699348-chr13:50762880..50765509,2	K562	blood:
22	chr13:50652189..50666968-chr13:50693462..50701392,46	MCF-7	breast:
23	chr13:50698177..50699740-chr13:50938730..50941309,2	MCF-7	breast:
24	chr13:50696939..50701257-chr13:51483386..51488031,9	K562	blood:
25	chr13:50569368..50571479-chr13:50698927..50701104,2	MCF-7	breast:
26	chr13:50696930..50699533-chr13:50721791..50723702,2	MCF-7	breast:
27	chr13:50697182..50699802-chr2:74734440..74736539,2	MCF-7	breast:
28	chr13:50509656..50512115-chr13:50697543..50699521,2	K562	blood:
29	chr13:50672721..50675302-chr13:50698038..50700346,2	K562	blood:
30	chr13:50698295..50699102-chr17:57918091..57918703,2	Hela-S3	cervix:
31	chr13:50653006..50665770-chr13:50696335..50703879,43	K562	blood:
32	chr13:50696545..50699318-chr13:50829348..50831026,2	MCF-7	breast:
33	chr13:50697261..50699908-chr13:50935542..50937568,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223676	Chromatin interaction
ENSG00000264864	Chromatin interaction
ENSG00000233672	Chromatin interaction
ENSG00000176124	Chromatin interaction
ENSG00000123178	Chromatin interaction
ENSG00000221198	Chromatin interaction
ENSG00000115289	Chromatin interaction
ENSG00000136104	Chromatin interaction
ENSG00000231607	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000229323	Chromatin interaction
ENSG00000204977	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000214359	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers 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	1249 gene(s)	inside rSNPs	diseases
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv1041501	chr13:50683189-50795195	Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	esv3404012	chr13:50698476-50701324	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50697200-50700400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr13:50697200-50700400	Active TSS	NHLF	lung
3	chr13:50697400-50700200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr13:50697400-50700400	Active TSS	Fetal Brain Female	brain
5	chr13:50697400-50700400	Active TSS	Fetal Muscle Leg	muscle
6	chr13:50697400-50700600	Active TSS	Right Ventricle	heart
7	chr13:50697600-50700000	Active TSS	Colonic Mucosa	Colon
8	chr13:50697600-50700200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr13:50697600-50700200	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr13:50697600-50700200	Active TSS	Pancreas	Pancrea
11	chr13:50697600-50700400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr13:50697600-50700400	Active TSS	Placenta	Placenta
13	chr13:50697600-50700600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr13:50697600-50700600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:50697600-50700600	Active TSS	Aorta	Aorta
16	chr13:50697600-50700600	Active TSS	Lung	lung
17	chr13:50697600-50700800	Active TSS	Esophagus	oesophagus
18	chr13:50697600-50700800	Active TSS	Fetal Muscle Trunk	muscle
19	chr13:50697600-50702000	Active TSS	Psoas Muscle	Psoas
20	chr13:50697600-50702000	Active TSS	Right Atrium	heart
21	chr13:50697600-50702200	Active TSS	Left Ventricle	heart
22	chr13:50697800-50699400	Active TSS	Fetal Heart	heart
23	chr13:50697800-50699600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr13:50697800-50700000	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:50697800-50700000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr13:50697800-50700000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr13:50697800-50700000	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
28	chr13:50697800-50700000	Active TSS	Placenta Amnion	Placenta Amnion
29	chr13:50697800-50700200	Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr13:50697800-50700200	Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr13:50697800-50700200	Active TSS	Fetal Intestine Large	intestine
32	chr13:50697800-50700200	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr13:50697800-50700400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:50697800-50700400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr13:50697800-50700400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr13:50697800-50700400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:50697800-50700400	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr13:50697800-50700400	Active TSS	Small Intestine	intestine
39	chr13:50697800-50700400	Active TSS	Thymus	Thymus
40	chr13:50697800-50700400	Active TSS	NHDF-Ad	bronchial
41	chr13:50697800-50700600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr13:50697800-50700600	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr13:50697800-50700600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr13:50697800-50700600	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr13:50697800-50700600	Active TSS	Brain Angular Gyrus	brain
46	chr13:50697800-50700600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr13:50697800-50700600	Active TSS	Rectal Smooth Muscle	rectum
48	chr13:50697800-50700600	Active TSS	Stomach Smooth Muscle	stomach
49	chr13:50697800-50700600	Active TSS	K562	blood
50	chr13:50697800-50700800	Active TSS	Colon Smooth Muscle	Colon

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