Variant report

Variant	rs9831049
Chromosome Location	chr3:113006999-113007000
allele	C/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:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:112769792..112770688-chr3:113006269..113007601,8	K562	blood:
2	chr3:112769856..112770762-chr3:113006684..113008064,6	MCF-7	breast:
3	chr3:113005964..113007970-chr3:113009934..113012808,2	MCF-7	breast:
4	chr3:112754036..112754942-chr3:113006666..113007589,3	MCF-7	breast:
5	chr3:112854611..112856025-chr3:113006063..113007441,4	K562	blood:
6	chr3:112856073..112856666-chr3:113006883..113007564,3	MCF-7	breast:
7	chr3:113006518..113009252-chr3:113022615..113024220,2	MCF-7	breast:
8	chr3:112769888..112771084-chr3:113006659..113007573,4	MCF-7	breast:
9	chr3:112854840..112855550-chr3:113006986..113007530,3	MCF-7	breast:
10	chr3:112854647..112855593-chr3:113006621..113007668,9	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR52-2	chr3:113005777-113007696	NONHSAT091225

No data

Variant related genes	Relation type
ENSG00000206530	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10511324	0.90[EUR][1000 genomes]
rs13326562	0.81[EUR][1000 genomes]
rs16860734	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28679287	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3995908	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6438134	0.95[EUR][1000 genomes]
rs7652801	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9288980	0.90[EUR][1000 genomes]
rs9811168	0.81[EUR][1000 genomes]
rs9819129	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9820627	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9823770	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9831364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9831793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9832953	0.82[AFR][1000 genomes]
rs9836199	0.81[EUR][1000 genomes]
rs9837357	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9840485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9851183	0.81[EUR][1000 genomes]
rs9853439	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9863114	0.81[EUR][1000 genomes]
rs9864630	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9869371	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv877348	chr3:112914756-113012509	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS 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 miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112984800-113016400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:112990400-113036000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:112993800-113036000	Weak transcription	Right Ventricle	heart
4	chr3:112995200-113016000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:112995200-113022400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr3:112995400-113024000	Weak transcription	Aorta	Aorta
7	chr3:112995400-113035800	Weak transcription	Lung	lung
8	chr3:112995600-113008400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:112995800-113013000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr3:112995800-113035800	Weak transcription	Thymus	Thymus
11	chr3:112996000-113025400	Weak transcription	Small Intestine	intestine
12	chr3:112996200-113034400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr3:112996400-113046400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr3:112997200-113036200	Weak transcription	Spleen	Spleen
15	chr3:112998600-113036000	Weak transcription	Gastric	stomach
16	chr3:113000200-113016400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr3:113000800-113014400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:113001200-113025400	Weak transcription	Brain Anterior Caudate	brain
19	chr3:113001200-113044600	Weak transcription	Fetal Kidney	kidney
20	chr3:113003200-113015400	Weak transcription	Brain Germinal Matrix	brain
21	chr3:113003400-113007000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
22	chr3:113003400-113022600	Weak transcription	Colonic Mucosa	Colon
23	chr3:113003800-113016200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:113003800-113023000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:113004000-113007000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:113004000-113007000	Enhancers	NHEK	skin
27	chr3:113004000-113007800	Weak transcription	Fetal Brain Female	brain
28	chr3:113004200-113007200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr3:113004200-113023800	Weak transcription	Brain Substantia Nigra	brain
30	chr3:113004600-113008000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:113004600-113008400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:113004600-113016200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:113005200-113007400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:113005400-113007000	Enhancers	NH-A	brain
35	chr3:113005400-113007000	Enhancers	NHLF	lung
36	chr3:113005600-113007000	Enhancers	NHDF-Ad	bronchial
37	chr3:113005600-113007600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:113005600-113029800	Weak transcription	Fetal Intestine Large	intestine
39	chr3:113005800-113007000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:113005800-113007000	Enhancers	Liver	Liver
41	chr3:113005800-113007000	Enhancers	Osteobl	bone
42	chr3:113005800-113008000	Enhancers	Colon Smooth Muscle	Colon
43	chr3:113006000-113007000	Genic enhancers	HSMM	muscle
44	chr3:113006200-113007000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:113006200-113007000	Enhancers	Rectal Smooth Muscle	rectum
46	chr3:113006200-113007200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr3:113006200-113007600	Weak transcription	Brain Angular Gyrus	brain
48	chr3:113006200-113007600	Weak transcription	Fetal Intestine Small	intestine
49	chr3:113006200-113009000	Weak transcription	Fetal Lung	lung
50	chr3:113006200-113009400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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