Variant report

Variant	rs7161311
Chromosome Location	chr14:25275554-25275555
allele	G/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:25275483..25276064-chr4:145324301..145324821,2	MCF-7	breast:
2	chr14:25179637..25180289-chr14:25275151..25276052,2	MCF-7	breast:
3	chr14:25275176..25276196-chr14:25601801..25602663,4	MCF-7	breast:
4	chr14:25275324..25276030-chr14:25620025..25620602,2	K562	blood:
5	chr14:25275544..25276429-chr14:25600109..25600712,2	MCF-7	breast:
6	chr14:25275348..25276037-chr14:25510991..25511724,2	MCF-7	breast:
7	chr14:25275145..25275846-chr14:25601792..25602797,3	K562	blood:
8	chr14:25275205..25275993-chr14:25619860..25620768,3	MCF-7	breast:
9	chr14:25275252..25276232-chr14:25706794..25707562,4	MCF-7	breast:
10	chr14:25274769..25276064-chr14:25511769..25512775,13	MCF-7	breast:
11	chr14:25275376..25275994-chr4:145324301..145324822,2	MCF-7	breast:

No data

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1241649	0.86[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs12878320	0.85[MEX][hapmap]
rs12893031	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17185158	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783445	0.93[ASN][1000 genomes]
rs7156092	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007588	0.93[MEX][hapmap]
rs8018496	0.93[MEX][hapmap]
rs854320	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs854333	0.86[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv901505	chr14:25237268-25360584	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1035284	chr14:25267840-25285191	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv542003	chr14:25267840-25285191	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv525203	chr14:25270335-25282967	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv456169	chr14:25270335-25288227	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv564071	chr14:25270335-25288227	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7161311	DHRS2	cis	parietal	SCAN
rs7161311	SLC7A8	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25272400-25283400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:25273200-25276800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr14:25273400-25276200	Enhancers	Fetal Lung	lung
4	chr14:25273400-25276200	Enhancers	HepG2	liver
5	chr14:25273400-25277600	Enhancers	Fetal Intestine Small	intestine
6	chr14:25273400-25277600	Weak transcription	Pancreas	Pancrea
7	chr14:25273400-25278200	Enhancers	Fetal Intestine Large	intestine
8	chr14:25273800-25276000	Enhancers	Stomach Mucosa	stomach
9	chr14:25274000-25283000	Weak transcription	Gastric	stomach
10	chr14:25274400-25275600	Enhancers	Fetal Muscle Leg	muscle
11	chr14:25275000-25276600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr14:25275000-25279400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr14:25275200-25275600	Enhancers	Brain Hippocampus Middle	brain
14	chr14:25275200-25275800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:25275200-25276000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr14:25275200-25276000	Enhancers	Brain Substantia Nigra	brain
17	chr14:25275200-25276000	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr14:25275200-25276200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr14:25275200-25276600	Enhancers	Fetal Heart	heart
20	chr14:25275200-25276600	Enhancers	Right Atrium	heart
21	chr14:25275200-25285000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:25275400-25275800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr14:25275400-25275800	Enhancers	Fetal Kidney	kidney
24	chr14:25275400-25276000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr14:25275400-25276200	Enhancers	Adipose Nuclei	Adipose
26	chr14:25275400-25276200	Enhancers	Brain Anterior Caudate	brain
27	chr14:25275400-25276200	Enhancers	Colon Smooth Muscle	Colon
28	chr14:25275400-25276200	Enhancers	Stomach Smooth Muscle	stomach
29	chr14:25275400-25276600	Enhancers	Duodenum Mucosa	Duodenum
30	chr14:25275400-25276600	Enhancers	Left Ventricle	heart
31	chr14:25275400-25277200	Enhancers	Liver	Liver
32	chr14:25275400-25278200	Weak transcription	HSMMtube	muscle
33	chr14:25275400-25278400	Enhancers	Right Ventricle	heart
34	chr14:25275400-25285000	Weak transcription	Lung	lung

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