Variant report

Variant	rs17072918
Chromosome Location	chr6:144019905-144019906
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144018054..144020954-chr6:144022528..144024554,3	MCF-7	breast:
2	chr6:143831227..143833944-chr6:144017748..144020555,2	MCF-7	breast:
3	chr6:144004544..144009046-chr6:144017005..144020189,4	K562	blood:
4	chr6:144011387..144013559-chr6:144018568..144021455,2	MCF-7	breast:
5	chr6:144011351..144015622-chr6:144016784..144019989,3	K562	blood:
6	chr6:144019071..144021984-chr6:144030527..144032678,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000001036	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10046128	1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10457749	1.00[CHD][hapmap]
rs17072850	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17072851	0.82[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs17072876	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17072890	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17072910	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17368239	1.00[CHD][hapmap]
rs3902794	0.80[EUR][1000 genomes]
rs6907742	1.00[JPT][hapmap]
rs9496727	1.00[ASN][1000 genomes]
rs9496730	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758084	chr6:143916621-144079976	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759476	chr6:143916621-144079976	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv886737	chr6:144010570-144033992	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17072918	CPXM1	trans	brain	seeQTL

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144005000-144020400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr6:144010400-144020000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:144011600-144053200	Weak transcription	Hela-S3	cervix
4	chr6:144012200-144026800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:144014200-144027800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:144014200-144039800	Weak transcription	Pancreas	Pancrea
7	chr6:144014400-144022600	Weak transcription	Fetal Intestine Large	intestine
8	chr6:144014600-144020200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:144014800-144020800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr6:144015400-144020000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:144015400-144020800	Weak transcription	Lung	lung
12	chr6:144015400-144034600	Weak transcription	Esophagus	oesophagus
13	chr6:144015800-144021800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr6:144016000-144021800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr6:144016000-144022000	Weak transcription	HSMMtube	muscle
16	chr6:144016200-144021600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr6:144016200-144023000	Enhancers	Adipose Nuclei	Adipose
18	chr6:144016200-144037200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:144016200-144038000	Weak transcription	NHEK	skin
20	chr6:144016400-144022000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:144016600-144020000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:144016600-144034000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:144016600-144034000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:144016800-144021800	Weak transcription	Brain Substantia Nigra	brain
25	chr6:144017000-144021000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr6:144017000-144022000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr6:144017000-144022200	Weak transcription	Brain Hippocampus Middle	brain
28	chr6:144017000-144023000	Weak transcription	Fetal Intestine Small	intestine
29	chr6:144017000-144023200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:144017000-144026800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr6:144017000-144038200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr6:144017200-144044200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr6:144017400-144021600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:144017400-144021800	Weak transcription	Small Intestine	intestine
35	chr6:144017400-144034400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr6:144017600-144020400	Weak transcription	Psoas Muscle	Psoas
37	chr6:144017600-144026800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr6:144017800-144020000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:144017800-144020400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr6:144017800-144047200	Weak transcription	K562	blood
41	chr6:144018000-144022200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:144018000-144030800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr6:144018200-144021800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr6:144018200-144021800	Weak transcription	NHLF	lung
45	chr6:144018200-144022000	Weak transcription	Fetal Heart	heart
46	chr6:144018200-144023000	Weak transcription	Aorta	Aorta
47	chr6:144018200-144026800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:144018200-144044400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr6:144018400-144020400	Weak transcription	Fetal Lung	lung
50	chr6:144018600-144021800	Weak transcription	Stomach Mucosa	stomach

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