Variant report

Variant	rs4864984
Chromosome Location	chr4:56240287-56240288
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56240192..56241907-chr4:56242608..56245605,4	K562	blood:
2	chr4:56240281..56248484-chr4:56258541..56264383,10	MCF-7	breast:
3	chr4:56237917..56240536-chr4:56260724..56263321,2	K562	blood:

Variant related genes	Relation type
ENSG00000249700	Chromatin interaction
ENSG00000134851	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11721546	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11724565	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11727586	0.83[EUR][1000 genomes]
rs11733128	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2459220	0.89[ASN][1000 genomes]
rs471546	0.93[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs480531	0.82[ASN][1000 genomes]
rs491381	1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504836	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs505861	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs532768	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs534654	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs549564	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs566240	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6554276	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66630638	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs711533	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236137	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7663955	0.89[ASN][1000 genomes]
rs7664496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7669259	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7672647	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7673897	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7692795	1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7697835	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv999477	chr4:56219035-56397180	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv537101	chr4:56219035-56397180	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56213600-56242600	Weak transcription	Gastric	stomach
2	chr4:56213800-56251400	Weak transcription	Pancreas	Pancrea
3	chr4:56214000-56241800	Weak transcription	Colonic Mucosa	Colon
4	chr4:56214400-56247600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:56220800-56241400	Weak transcription	Primary T cells from cord blood	blood
6	chr4:56225800-56244800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr4:56225800-56244800	Weak transcription	Stomach Mucosa	stomach
8	chr4:56226000-56240400	Weak transcription	HSMM	muscle
9	chr4:56226000-56241200	Weak transcription	Esophagus	oesophagus
10	chr4:56226000-56245000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:56226000-56245000	Weak transcription	HSMMtube	muscle
12	chr4:56228000-56244800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:56228400-56245400	Weak transcription	K562	blood
14	chr4:56228400-56251000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:56230400-56242000	Weak transcription	Ovary	ovary
16	chr4:56230600-56241200	Weak transcription	Fetal Muscle Leg	muscle
17	chr4:56230600-56245200	Weak transcription	Fetal Intestine Small	intestine
18	chr4:56232000-56241800	Weak transcription	Lung	lung
19	chr4:56232000-56247600	Weak transcription	Spleen	Spleen
20	chr4:56233200-56241800	Weak transcription	Fetal Stomach	stomach
21	chr4:56233200-56261600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:56234000-56244800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:56235800-56247600	Weak transcription	Aorta	Aorta
24	chr4:56236000-56240400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:56236400-56242200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr4:56236400-56248400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr4:56236800-56241600	Weak transcription	Dnd41	blood
28	chr4:56236800-56243800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr4:56237000-56241000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:56237000-56245400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:56237000-56247800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:56237200-56243200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:56237200-56247800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:56238000-56240400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr4:56238000-56240600	Enhancers	Brain Hippocampus Middle	brain
36	chr4:56238600-56240400	Enhancers	Brain Anterior Caudate	brain
37	chr4:56238600-56240600	Enhancers	Brain Substantia Nigra	brain
38	chr4:56239000-56242000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:56239000-56245000	Weak transcription	Adipose Nuclei	Adipose
40	chr4:56239400-56241000	Enhancers	Brain Cingulate Gyrus	brain
41	chr4:56239800-56251400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:56240000-56240400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:56240000-56241200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:56240200-56240600	Weak transcription	Brain Angular Gyrus	brain
45	chr4:56240200-56249400	Weak transcription	Left Ventricle	heart

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