Variant report

Variant	rs117431243
Chromosome Location	chr8:103666218-103666219
allele	A/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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103251288..103253851-chr8:103665938..103668117,3	MCF-7	breast:
2	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
3	chr8:103665043..103667902-chr8:104032502..104034925,2	K562	blood:
4	chr6:26215473..26218378-chr8:103666198..103668102,2	MCF-7	breast:
5	chr8:102504729..102507317-chr8:103666096..103668970,4	MCF-7	breast:
6	chr8:103665446..103666548-chr8:103822796..103823768,4	MCF-7	breast:
7	chr8:103420666..103426323-chr8:103664417..103668286,11	K562	blood:
8	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
9	chr8:103251457..103253123-chr8:103664713..103667608,2	K562	blood:
10	chr8:103665539..103666371-chr8:103798347..103799288,2	MCF-7	breast:
11	chr8:103570250..103572915-chr8:103665541..103668437,2	MCF-7	breast:
12	chr8:103665570..103666349-chr8:103822679..103823550,2	MCF-7	breast:
13	chr17:58154613..58157285-chr8:103665934..103668850,2	MCF-7	breast:
14	chr8:103665615..103668454-chr9:19407713..19410281,2	MCF-7	breast:
15	chr8:103664543..103668719-chr8:103874742..103878936,8	MCF-7	breast:
16	chr8:103251275..103253446-chr8:103664809..103667608,3	K562	blood:
17	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
18	chr6:13574305..13575294-chr8:103665947..103666716,2	Hela-S3	cervix:
19	chr8:103423355..103425914-chr8:103664541..103666736,4	MCF-7	breast:
20	chr8:103664622..103666232-chr8:103692078..103693686,2	K562	blood:
21	chr8:103665763..103666536-chr8:103820129..103820844,3	MCF-7	breast:
22	chr8:103422740..103426162-chr8:103661845..103666384,4	MCF-7	breast:
23	chr8:103663808..103666386-chr8:103714227..103715917,2	K562	blood:
24	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254236	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000267416	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000177076	Chromatin interaction
ENSG00000068097	Chromatin interaction
ENSG00000155097	Chromatin interaction
ENSG00000124523	Chromatin interaction
ENSG00000155087	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3409107	chr8:103665226-103668974	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	58 gene(s)	inside rSNPs	diseases
4	esv3373038	chr8:103665601-103668149	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	57 gene(s)	inside rSNPs	diseases
5	esv3387688	chr8:103665726-103668424	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	57 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	chr8:103664000-103667200	Active TSS	Fetal Brain Female	brain
2	chr8:103664000-103669600	Active TSS	Psoas Muscle	Psoas
3	chr8:103664200-103666600	Weak transcription	Lung	lung
4	chr8:103664200-103666600	Weak transcription	Spleen	Spleen
5	chr8:103664200-103669200	Active TSS	HSMMtube	muscle
6	chr8:103664200-103670000	Active TSS	Right Atrium	heart
7	chr8:103664400-103668800	Active TSS	Right Ventricle	heart
8	chr8:103664600-103667000	Active TSS	Brain Germinal Matrix	brain
9	chr8:103664600-103668600	Active TSS	Stomach Smooth Muscle	stomach
10	chr8:103664800-103669800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:103665000-103666800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:103665000-103667200	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr8:103665000-103667600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:103665000-103668800	Active TSS	Fetal Intestine Large	intestine
15	chr8:103665000-103668800	Active TSS	Fetal Intestine Small	intestine
16	chr8:103665000-103668800	Active TSS	Placenta	Placenta
17	chr8:103665000-103669000	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr8:103665000-103670200	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr8:103665200-103667200	Active TSS	Fetal Stomach	stomach
20	chr8:103665200-103667200	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr8:103665200-103667400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:103665200-103667600	Active TSS	Colonic Mucosa	Colon
23	chr8:103665200-103668800	Active TSS	K562	blood
24	chr8:103665200-103669000	Active TSS	Colon Smooth Muscle	Colon
25	chr8:103665200-103669200	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr8:103665200-103670000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:103665200-103670000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr8:103665200-103670000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:103665400-103666800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:103665400-103667200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:103665400-103667200	Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr8:103665400-103667200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr8:103665400-103667200	Active TSS	HepG2	liver
34	chr8:103665400-103667400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr8:103665400-103668600	Active TSS	Fetal Muscle Leg	muscle
36	chr8:103665400-103668800	Active TSS	Primary monocytes fromperipheralblood	blood
37	chr8:103665400-103668800	Active TSS	Liver	Liver
38	chr8:103665400-103669000	Active TSS	H1 Cell Line	embryonic stem cell
39	chr8:103665400-103669000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:103665400-103669000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:103665400-103669600	Active TSS	GM12878-XiMat	blood
42	chr8:103665600-103667000	Active TSS	Fetal Muscle Trunk	muscle
43	chr8:103665600-103667200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:103665600-103667200	Active TSS	Primary T cells fromperipheralblood	blood
45	chr8:103665600-103667200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:103665600-103667200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:103665600-103667200	Active TSS	Fetal Thymus	thymus
48	chr8:103665600-103667200	Active TSS	Thymus	Thymus
49	chr8:103665600-103667400	Active TSS	Brain Cingulate Gyrus	brain
50	chr8:103665600-103667400	Active TSS	Rectal Mucosa Donor 29	rectum

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