Variant report

Variant	rs8042617
Chromosome Location	chr15:77245857-77245858
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:77245562..77247184-chr15:77254642..77256229,2	K562	blood:
2	chr15:77224050..77226260-chr15:77243934..77246089,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117906	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12101854	1.00[EUR][1000 genomes]
rs16968490	1.00[EUR][1000 genomes]
rs16968545	1.00[EUR][1000 genomes]
rs2629032	1.00[EUR][1000 genomes]
rs28502726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28574883	1.00[EUR][1000 genomes]
rs28757741	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28804114	1.00[EUR][1000 genomes]
rs3110383	1.00[ASN][1000 genomes]
rs55682754	1.00[EUR][1000 genomes]
rs55737539	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57365998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57366798	1.00[EUR][1000 genomes]
rs58934799	1.00[EUR][1000 genomes]
rs59572944	1.00[EUR][1000 genomes]
rs61024611	1.00[EUR][1000 genomes]
rs7163296	1.00[EUR][1000 genomes]
rs7168603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024627	1.00[EUR][1000 genomes]
rs74024634	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74024639	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3367577	chr15:77015618-77442634	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	esv2758388	chr15:77170550-77373448	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv2760041	chr15:77170550-77373448	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv833058	chr15:77235895-77393640	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr15:77224800-77256000	Weak transcription	Pancreas	Pancrea
2	chr15:77225000-77247000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:77225000-77254600	Weak transcription	Aorta	Aorta
4	chr15:77225000-77260200	Weak transcription	Right Ventricle	heart
5	chr15:77225200-77246400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr15:77225400-77255400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr15:77226200-77247200	Weak transcription	Fetal Brain Male	brain
8	chr15:77229200-77251600	Weak transcription	NHLF	lung
9	chr15:77229400-77249000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr15:77229400-77254400	Weak transcription	Psoas Muscle	Psoas
11	chr15:77229400-77255000	Weak transcription	Gastric	stomach
12	chr15:77231400-77246400	Weak transcription	GM12878-XiMat	blood
13	chr15:77231400-77251800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:77231600-77247200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr15:77233800-77253400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:77234800-77246600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr15:77237200-77253000	Weak transcription	Ovary	ovary
18	chr15:77238200-77247000	Weak transcription	Fetal Kidney	kidney
19	chr15:77238600-77246800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr15:77238800-77246600	Weak transcription	Colon Smooth Muscle	Colon
21	chr15:77240000-77246800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr15:77241400-77256000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:77241600-77253800	Weak transcription	HSMMtube	muscle
24	chr15:77241800-77246000	Weak transcription	NHDF-Ad	bronchial
25	chr15:77242000-77247600	Weak transcription	NHEK	skin
26	chr15:77242000-77250800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr15:77242200-77246800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr15:77242800-77251800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:77243200-77246200	Weak transcription	Fetal Intestine Small	intestine
30	chr15:77243200-77247200	Weak transcription	Fetal Stomach	stomach
31	chr15:77243200-77251800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr15:77243400-77249800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:77243600-77246200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:77243600-77246400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr15:77243600-77247000	Weak transcription	Brain Germinal Matrix	brain
36	chr15:77243600-77247200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr15:77243600-77252200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr15:77243600-77253600	Weak transcription	Osteobl	bone
39	chr15:77243800-77246000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr15:77243800-77246000	Weak transcription	Fetal Intestine Large	intestine
41	chr15:77243800-77246000	Weak transcription	Dnd41	blood
42	chr15:77243800-77246200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr15:77243800-77246400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr15:77243800-77246800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr15:77243800-77247000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr15:77243800-77247000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr15:77243800-77247200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr15:77243800-77248200	Weak transcription	Fetal Brain Female	brain
49	chr15:77243800-77251600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr15:77243800-77251800	Weak transcription	H9 Cell Line	embryonic stem cell

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