Variant report

Variant	rs9994181
Chromosome Location	chr4:119247437-119247438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119199843..119203968-chr4:119245801..119250116,5	MCF-7	breast:
2	chr4:119246811..119249310-chr4:119251021..119252751,2	K562	blood:

Variant related genes	Relation type
ENSG00000269893	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10002349	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10002475	1.00[YRI][hapmap]
rs10003652	1.00[AMR][1000 genomes]
rs10005659	1.00[AMR][1000 genomes]
rs10007553	1.00[AMR][1000 genomes]
rs10018706	1.00[AMR][1000 genomes]
rs10019302	1.00[AFR][1000 genomes]
rs10024548	1.00[AMR][1000 genomes]
rs10025029	1.00[AMR][1000 genomes]
rs10025515	1.00[AMR][1000 genomes]
rs10028823	1.00[AMR][1000 genomes]
rs10030057	1.00[AMR][1000 genomes]
rs10030548	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10031402	1.00[AMR][1000 genomes]
rs10032705	0.87[AFR][1000 genomes]
rs10033678	1.00[YRI][hapmap]
rs10212745	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11931409	1.00[AMR][1000 genomes]
rs13434557	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28376814	1.00[AFR][1000 genomes]
rs28421210	0.87[AFR][1000 genomes]
rs28421577	1.00[AMR][1000 genomes]
rs28451256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28558085	1.00[AMR][1000 genomes]
rs28567841	1.00[AMR][1000 genomes]
rs28576396	1.00[AMR][1000 genomes]
rs28579325	0.87[AFR][1000 genomes]
rs28582030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28585079	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28610040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28619162	1.00[AMR][1000 genomes]
rs28634343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28665169	1.00[AMR][1000 genomes]
rs28667866	1.00[AFR][1000 genomes]
rs28669076	1.00[AMR][1000 genomes]
rs28682376	1.00[AMR][1000 genomes]
rs28713634	1.00[AFR][1000 genomes]
rs28715892	1.00[AMR][1000 genomes]
rs28735538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28740899	1.00[AMR][1000 genomes]
rs28771156	1.00[AMR][1000 genomes]
rs28823876	1.00[AMR][1000 genomes]
rs28847597	1.00[AMR][1000 genomes]
rs28886020	1.00[AMR][1000 genomes]
rs57461354	1.00[AMR][1000 genomes]
rs9307456	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119202800-119267200	Weak transcription	Stomach Mucosa	stomach
2	chr4:119209600-119258600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:119210000-119259200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:119210200-119258600	Weak transcription	HMEC	breast
5	chr4:119212600-119259200	Weak transcription	NHEK	skin
6	chr4:119216400-119249800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:119220200-119260000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:119229000-119267200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:119237600-119250800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:119239800-119259200	Weak transcription	Fetal Brain Male	brain
11	chr4:119241200-119248800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:119243800-119252800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:119243800-119259000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:119244800-119248600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:119244800-119248600	Weak transcription	Osteobl	bone
16	chr4:119246200-119247600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr4:119246200-119250400	Enhancers	NHDF-Ad	bronchial
18	chr4:119246400-119250000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr4:119246800-119247600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr4:119246800-119247600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:119246800-119247600	Enhancers	Fetal Lung	lung
22	chr4:119247000-119248400	Weak transcription	NHLF	lung
23	chr4:119247200-119248600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:119247200-119259200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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