Variant report

Variant	rs73088118
Chromosome Location	chr4:3088968-3088969
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3082361..3085504-chr4:3087676..3091805,3	K562	blood:
2	chr4:3075920..3077943-chr4:3087601..3090222,2	K562	blood:
3	chr4:2964499..2967018-chr4:3088885..3091824,2	MCF-7	breast:
4	chr4:3076425..3077993-chr4:3087345..3089440,2	MCF-7	breast:
5	chr4:3083170..3085782-chr4:3088829..3091721,2	K562	blood:

Variant related genes	Relation type
ENSG00000125388	Chromatin interaction
ENSG00000197386	Chromatin interaction
ENSG00000251075	Chromatin interaction
ENSG00000087269	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11938764	1.00[AMR][1000 genomes]
rs11939994	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57833463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59292988	1.00[AMR][1000 genomes]
rs59742632	1.00[AMR][1000 genomes]
rs60105607	1.00[AMR][1000 genomes]
rs60340572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61101785	0.89[AFR][1000 genomes]
rs73073008	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73073064	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73074845	1.00[AMR][1000 genomes]
rs73074847	1.00[AMR][1000 genomes]
rs73088115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088169	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088174	0.85[AFR][1000 genomes];1.00[AMR][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	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3077400-3093800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:3077800-3089000	Weak transcription	Aorta	Aorta
3	chr4:3077800-3096400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:3078000-3094600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:3078000-3094600	Weak transcription	Esophagus	oesophagus
6	chr4:3078000-3097400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:3078000-3097600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:3078000-3101000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:3078000-3103000	Weak transcription	Colonic Mucosa	Colon
10	chr4:3078200-3089000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:3078200-3089000	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:3078200-3094600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:3078200-3101000	Weak transcription	Brain Substantia Nigra	brain
14	chr4:3078200-3109800	Weak transcription	Stomach Mucosa	stomach
15	chr4:3078400-3091600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:3078400-3093200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr4:3078400-3094600	Weak transcription	A549	lung
18	chr4:3078400-3097000	Weak transcription	Brain Anterior Caudate	brain
19	chr4:3078400-3102200	Weak transcription	Hela-S3	cervix
20	chr4:3078400-3107000	Weak transcription	HMEC	breast
21	chr4:3078600-3089000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:3078600-3089000	Weak transcription	Fetal Lung	lung
23	chr4:3078600-3090200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:3078600-3090200	Weak transcription	HSMM	muscle
25	chr4:3078600-3094200	Weak transcription	Fetal Brain Female	brain
26	chr4:3078600-3094200	Weak transcription	Fetal Muscle Leg	muscle
27	chr4:3078600-3094200	Weak transcription	HSMMtube	muscle
28	chr4:3078600-3094600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr4:3078600-3094600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr4:3078600-3101000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr4:3078600-3113800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr4:3078800-3089000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:3078800-3089000	Weak transcription	Fetal Intestine Large	intestine
34	chr4:3078800-3108800	Weak transcription	Psoas Muscle	Psoas
35	chr4:3079000-3094000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr4:3079800-3107200	Weak transcription	Fetal Brain Male	brain
37	chr4:3080000-3089000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:3080000-3089000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:3080000-3089000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr4:3080000-3090600	Weak transcription	Fetal Kidney	kidney
41	chr4:3080000-3094600	Weak transcription	Brain Germinal Matrix	brain
42	chr4:3080000-3117800	Weak transcription	Small Intestine	intestine
43	chr4:3080200-3093200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:3081600-3101000	Weak transcription	Spleen	Spleen
45	chr4:3081800-3093200	Weak transcription	Fetal Heart	heart
46	chr4:3081800-3101600	Weak transcription	Ovary	ovary
47	chr4:3081800-3101600	Weak transcription	Right Ventricle	heart
48	chr4:3084200-3090400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr4:3084200-3097200	Weak transcription	NHDF-Ad	bronchial
50	chr4:3084400-3109000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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