Variant report

Variant	rs17013235
Chromosome Location	chr4:129307260-129307261
allele	C/T
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:128981232..128984176-chr4:129305294..129307414,2	MCF-7	breast:
2	chr4:129209990..129212940-chr4:129306531..129308783,2	MCF-7	breast:
3	chr4:129299568..129302114-chr4:129305690..129309933,3	MCF-7	breast:
4	chr4:129305151..129309192-chr4:129309393..129314281,5	K562	blood:
5	chr4:129305678..129308286-chr4:129449274..129450923,2	MCF-7	breast:
6	chr4:129206931..129210316-chr4:129305166..129310955,10	MCF-7	breast:
7	chr4:129306461..129307435-chr4:129348819..129349442,2	MCF-7	breast:
8	chr4:129304978..129307825-chr4:129445122..129446888,2	MCF-7	breast:
9	chr4:129306838..129309441-chr4:129374986..129377147,3	MCF-7	breast:
10	chr4:129306866..129307366-chr4:129730209..129730867,2	K562	blood:
11	chr4:129306230..129308193-chr4:129309393..129312051,2	K562	blood:
12	chr4:129277469..129279928-chr4:129306182..129308893,2	MCF-7	breast:
13	chr4:129206950..129209974-chr4:129306289..129310071,5	MCF-7	breast:
14	chr4:129307193..129309855-chr4:129437736..129439339,2	K562	blood:
15	chr4:129242195..129245805-chr4:129305506..129308663,3	MCF-7	breast:
16	chr4:129301690..129303504-chr4:129307235..129309369,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251432	Chromatin interaction
ENSG00000077684	Chromatin interaction
ENSG00000138709	Chromatin interaction
ENSG00000164040	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11947006	1.00[MKK][hapmap]
rs17013120	1.00[YRI][hapmap]
rs17013176	0.81[AFR][1000 genomes]
rs17013309	1.00[MKK][hapmap];0.80[YRI][hapmap]
rs28753719	0.97[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129298600-129307400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:129298800-129307400	Weak transcription	Fetal Intestine Small	intestine
3	chr4:129299000-129307400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:129301800-129314000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:129304200-129310200	Enhancers	Placenta	Placenta
6	chr4:129304400-129310600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:129304600-129309600	Enhancers	HSMM	muscle
8	chr4:129304600-129309800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:129304600-129309800	Enhancers	HSMMtube	muscle
10	chr4:129305000-129307600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:129305000-129309600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr4:129305000-129309600	Enhancers	NH-A	brain
13	chr4:129305000-129309800	Enhancers	Osteobl	bone
14	chr4:129305200-129307400	Enhancers	Rectal Smooth Muscle	rectum
15	chr4:129305200-129308000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:129305200-129308800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:129305200-129314400	Weak transcription	Small Intestine	intestine
18	chr4:129305400-129307600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr4:129305400-129310200	Enhancers	Ovary	ovary
20	chr4:129305600-129308000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr4:129305600-129308000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr4:129305600-129309200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr4:129305800-129307400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr4:129305800-129307600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr4:129305800-129307600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr4:129305800-129307800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:129305800-129308800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:129305800-129309600	Enhancers	NHLF	lung
29	chr4:129306000-129307400	Weak transcription	Esophagus	oesophagus
30	chr4:129306000-129310200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr4:129306200-129307800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr4:129306200-129308000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr4:129306200-129308000	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr4:129306200-129310000	Enhancers	Stomach Mucosa	stomach
35	chr4:129306400-129307400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr4:129306400-129307600	Enhancers	Hela-S3	cervix
37	chr4:129306400-129307800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr4:129306400-129307800	Enhancers	Aorta	Aorta
39	chr4:129306400-129307800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr4:129306400-129308200	Enhancers	Fetal Kidney	kidney
41	chr4:129306400-129308600	Enhancers	Fetal Lung	lung
42	chr4:129306400-129309200	Enhancers	Duodenum Mucosa	Duodenum
43	chr4:129306400-129309200	Enhancers	Fetal Stomach	stomach
44	chr4:129306400-129309400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:129306400-129309400	Enhancers	K562	blood
46	chr4:129306400-129309600	Enhancers	Adipose Nuclei	Adipose
47	chr4:129306400-129310000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:129306400-129310000	Enhancers	HMEC	breast
49	chr4:129306400-129310200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:129306400-129310600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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