Variant report

Variant	rs61652297
Chromosome Location	chr4:2876448-2876449
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr4:2876423-2876645	HepG2	liver:	n/a	chr4:2876566-2876581
2	MAFK	chr4:2876435-2876714	HepG2	liver:	n/a	chr4:2876566-2876581

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:2876022..2879054-chr4:2934409..2936795,3	MCF-7	breast:

Variant related genes	Relation type
ADD1	TF binding region
ENSG00000249673	Chromatin interaction
ENSG00000109736	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs16843459	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16843490	1.00[AMR][1000 genomes]
rs16843682	1.00[AMR][1000 genomes]
rs35304823	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35983864	1.00[AMR][1000 genomes]
rs55676948	1.00[AMR][1000 genomes]
rs56315133	1.00[AMR][1000 genomes]
rs57551202	1.00[AMR][1000 genomes]
rs57960709	1.00[AMR][1000 genomes]
rs58279895	1.00[AMR][1000 genomes]
rs60514033	1.00[AMR][1000 genomes]
rs60745500	1.00[AMR][1000 genomes]
rs61747144	1.00[AMR][1000 genomes]
rs6830234	1.00[AMR][1000 genomes]
rs73792109	1.00[AMR][1000 genomes]
rs73792110	1.00[AMR][1000 genomes]
rs73792112	1.00[AMR][1000 genomes]
rs73792115	1.00[AMR][1000 genomes]
rs73792116	1.00[AMR][1000 genomes]
rs73794816	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794824	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794825	1.00[AMR][1000 genomes]
rs73794827	1.00[AMR][1000 genomes]
rs7657843	1.00[AMR][1000 genomes]
rs7676937	1.00[AMR][1000 genomes]
rs7699427	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv593435	chr4:2770772-2881256	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv521858	chr4:2846799-2881256	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv524060	chr4:2850142-2881256	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2857000-2877000	Weak transcription	Dnd41	blood
2	chr4:2857400-2877600	Weak transcription	HMEC	breast
3	chr4:2864600-2877400	Weak transcription	NHEK	skin
4	chr4:2870000-2877400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:2870000-2877600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr4:2870200-2877000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:2870200-2914000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:2870600-2886000	Weak transcription	Fetal Brain Male	brain
9	chr4:2870800-2877800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:2870800-2878800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:2871000-2877600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:2871000-2885800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr4:2871200-2877000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:2871200-2877000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr4:2871200-2877400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr4:2871200-2877400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:2871200-2877400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:2871200-2877400	Weak transcription	Placenta	Placenta
19	chr4:2871200-2877400	Weak transcription	Thymus	Thymus
20	chr4:2871200-2881600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr4:2871200-2886000	Weak transcription	Aorta	Aorta
22	chr4:2871200-2896000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:2871200-2900600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:2871400-2877400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:2871400-2877400	Weak transcription	Fetal Kidney	kidney
26	chr4:2871400-2879400	Weak transcription	Gastric	stomach
27	chr4:2871600-2877200	Weak transcription	Brain Germinal Matrix	brain
28	chr4:2871600-2877600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:2871600-2877600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr4:2871600-2880800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:2871800-2876800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:2871800-2876800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr4:2871800-2877400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr4:2871800-2877800	Weak transcription	Fetal Brain Female	brain
35	chr4:2871800-2880400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr4:2872000-2876600	Weak transcription	Fetal Stomach	stomach
37	chr4:2872000-2877200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:2872200-2890800	Weak transcription	A549	lung
39	chr4:2872400-2876600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:2872400-2877600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr4:2872600-2877800	Enhancers	Brain Hippocampus Middle	brain
42	chr4:2873200-2877000	Enhancers	Primary T cells fromperipheralblood	blood
43	chr4:2873600-2878000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:2873800-2876800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr4:2873800-2877400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr4:2873800-2877400	Weak transcription	Osteobl	bone
47	chr4:2874000-2876800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:2874000-2876800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr4:2874000-2876800	Weak transcription	GM12878-XiMat	blood
50	chr4:2874000-2877200	Weak transcription	Fetal Muscle Leg	muscle

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