Variant report

Variant	rs17574630
Chromosome Location	chr6:117819718-117819719
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:117814171..117818032-chr6:117819476..117821620,3	MCF-7	breast:
2	chr6:117803144..117805808-chr6:117819445..117822186,3	MCF-7	breast:
3	chr6:117818749..117822306-chr6:117824272..117826504,3	K562	blood:

Variant related genes	Relation type
ENSG00000164465	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs13194436	1.00[AFR][1000 genomes]
rs13203726	1.00[AFR][1000 genomes]
rs13212382	1.00[AFR][1000 genomes]
rs2243375	1.00[AFR][1000 genomes]
rs2243377	1.00[AFR][1000 genomes]
rs2243380	1.00[AFR][1000 genomes]
rs2273603	1.00[AFR][1000 genomes]
rs34231660	1.00[AFR][1000 genomes]
rs34258179	1.00[AFR][1000 genomes]
rs34280338	1.00[AFR][1000 genomes]
rs35837924	1.00[AFR][1000 genomes]
rs3777974	1.00[AFR][1000 genomes]
rs3777975	1.00[AFR][1000 genomes]
rs3777976	1.00[AFR][1000 genomes]
rs3798391	1.00[AFR][1000 genomes]
rs3798392	1.00[AFR][1000 genomes]
rs71570847	1.00[AFR][1000 genomes]
rs71570849	1.00[AFR][1000 genomes]
rs9372479	1.00[AFR][1000 genomes]
rs9387473	1.00[AFR][1000 genomes]
rs9398458	1.00[AFR][1000 genomes]
rs9401005	1.00[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	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs17574630	FRK	cis	cerebellum	SCAN
rs17574630	DCBLD1	cis	Whole Blood	GTEx
rs17574630	DCBLD1	cis	parietal	SCAN
rs17574630	MARCKS	cis	cerebellum	SCAN
rs17574630	ROS1	cis	parietal	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117805200-117825600	Weak transcription	Lung	lung
2	chr6:117805200-117826600	Weak transcription	Esophagus	oesophagus
3	chr6:117805200-117851200	Weak transcription	Right Ventricle	heart
4	chr6:117805800-117825600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr6:117805800-117826200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:117806200-117826400	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:117806200-117826600	Weak transcription	Pancreas	Pancrea
8	chr6:117808800-117824400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:117808800-117826800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:117812800-117820000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:117813600-117820600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:117814400-117820400	Enhancers	Fetal Lung	lung
13	chr6:117815000-117825600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:117815600-117821200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:117816400-117820200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:117816400-117820400	Enhancers	Osteobl	bone
17	chr6:117816400-117821200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:117816400-117827800	Weak transcription	Right Atrium	heart
19	chr6:117816400-117828000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr6:117816400-117828600	Weak transcription	K562	blood
21	chr6:117816400-117841400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:117816800-117825600	Weak transcription	Left Ventricle	heart
23	chr6:117816800-117827800	Weak transcription	Gastric	stomach
24	chr6:117817600-117821400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:117817800-117819800	Flanking Active TSS	HUVEC	blood vessel
26	chr6:117817800-117820000	Enhancers	HSMM	muscle
27	chr6:117817800-117827600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:117818000-117823800	Weak transcription	Stomach Mucosa	stomach
29	chr6:117818200-117820000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:117818200-117820400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr6:117818200-117821200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:117818400-117825600	Weak transcription	Fetal Intestine Small	intestine
33	chr6:117818400-117833600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr6:117818600-117820000	Enhancers	NHLF	lung
35	chr6:117818800-117819800	Enhancers	Fetal Kidney	kidney
36	chr6:117818800-117820400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:117818800-117824000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr6:117818800-117825200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr6:117819000-117819800	Enhancers	Adipose Nuclei	Adipose
40	chr6:117819200-117819800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:117819200-117819800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:117819200-117819800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr6:117819200-117819800	Enhancers	Hela-S3	cervix
44	chr6:117819200-117819800	Flanking Active TSS	NHEK	skin
45	chr6:117819200-117820000	Enhancers	Primary hematopoietic stem cells	blood
46	chr6:117819200-117820000	Enhancers	HSMMtube	muscle
47	chr6:117819200-117820000	Flanking Active TSS	NH-A	brain
48	chr6:117819400-117819800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:117819400-117819800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:117819400-117819800	Enhancers	Aorta	Aorta

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