Variant report

Variant	rs4696733
Chromosome Location	chr4:8034908-8034909
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8030441..8032567-chr4:8033404..8037009,3	K562	blood:
2	chr4:8024330..8026063-chr4:8034890..8037450,2	MCF-7	breast:
3	chr4:8034585..8036214-chr4:8037779..8039313,2	MCF-7	breast:
4	chr4:8019333..8020892-chr4:8033325..8035259,2	MCF-7	breast:
5	chr4:8034679..8036492-chr4:8044258..8047037,2	K562	blood:
6	chr4:8033575..8035551-chr4:8063220..8065289,2	K562	blood:

Variant related genes	Relation type
ENSG00000273267	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1878324	0.94[ASN][1000 genomes]
rs28368826	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28392704	0.88[ASN][1000 genomes]
rs28393730	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28434688	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28497350	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4696734	0.98[ASN][1000 genomes]
rs62290639	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv829851	chr4:7958698-8049060	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv469779	chr4:7965253-8177646	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv482448	chr4:7965253-8177646	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
6	nsv829852	chr4:7991906-8151267	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878580	chr4:8012167-8045469	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv470009	chr4:8015421-8085174	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv878581	chr4:8021592-8100272	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv878582	chr4:8023484-8047973	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv878583	chr4:8023484-8049713	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv878584	chr4:8023484-8075134	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv878585	chr4:8023484-8116202	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv878586	chr4:8023484-8148159	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv593624	chr4:8026176-8047973	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv878587	chr4:8031471-8075134	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv878588	chr4:8034772-8070793	Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv878589	chr4:8034772-8089598	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8010600-8052000	Weak transcription	Left Ventricle	heart
2	chr4:8012400-8039000	Weak transcription	Gastric	stomach
3	chr4:8012800-8035000	Weak transcription	Pancreas	Pancrea
4	chr4:8013000-8036600	Weak transcription	Right Ventricle	heart
5	chr4:8017400-8040400	Weak transcription	Right Atrium	heart
6	chr4:8022000-8037600	Weak transcription	Lung	lung
7	chr4:8022200-8040600	Weak transcription	Fetal Brain Female	brain
8	chr4:8022400-8035400	Weak transcription	Brain Anterior Caudate	brain
9	chr4:8022400-8039000	Weak transcription	Brain Angular Gyrus	brain
10	chr4:8023200-8039600	Weak transcription	Brain Germinal Matrix	brain
11	chr4:8023200-8041000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:8023800-8037200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr4:8023800-8041200	Weak transcription	Brain Substantia Nigra	brain
14	chr4:8028800-8035600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr4:8029200-8035400	Strong transcription	Spleen	Spleen
16	chr4:8029800-8046600	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:8030400-8039200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:8030800-8037600	Weak transcription	Fetal Intestine Small	intestine
19	chr4:8031200-8052000	Weak transcription	Psoas Muscle	Psoas
20	chr4:8033000-8035400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:8033000-8035400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:8033000-8036800	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr4:8033200-8035400	Weak transcription	Esophagus	oesophagus
24	chr4:8033200-8035600	Weak transcription	Aorta	Aorta
25	chr4:8033400-8036800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr4:8033400-8037000	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr4:8034600-8035000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr4:8034600-8036000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:8034600-8039000	Weak transcription	H9 Cell Line	embryonic stem cell

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