Variant report

Variant	rs6864720
Chromosome Location	chr5:98254906-98254907
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:98254296..98256757-chr5:98393861..98395478,2	K562	blood:
2	chr5:98249580..98254954-chr5:98261706..98266693,12	MCF-7	breast:
3	chr5:98252569..98255536-chr5:98389385..98390974,2	K562	blood:

Variant related genes	Relation type
ENSG00000248489	Chromatin interaction
ENSG00000153922	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1007453	1.00[ASW][hapmap]
rs10515285	1.00[ASW][hapmap];0.94[LWK][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes]
rs17166367	0.94[LWK][hapmap];0.93[YRI][hapmap]
rs17166368	0.94[LWK][hapmap];0.93[YRI][hapmap]
rs17166461	1.00[ASW][hapmap];0.94[LWK][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes]
rs17166471	0.92[YRI][hapmap];0.89[AFR][1000 genomes]
rs17166564	0.87[AFR][1000 genomes]
rs35394679	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs3860806	0.82[AFR][1000 genomes]
rs55654090	0.87[AFR][1000 genomes]
rs55660533	0.86[AFR][1000 genomes]
rs57249217	0.89[AFR][1000 genomes]
rs57253975	0.84[AFR][1000 genomes]
rs58477983	0.91[AFR][1000 genomes]
rs60298381	0.95[AFR][1000 genomes]
rs61515191	0.84[AFR][1000 genomes]
rs6890688	0.93[YRI][hapmap]
rs6895731	0.94[LWK][hapmap];0.93[YRI][hapmap]
rs731496	0.85[AFR][1000 genomes]
rs73153510	0.82[AFR][1000 genomes]
rs73153574	0.91[AFR][1000 genomes]
rs73153600	1.00[AFR][1000 genomes]
rs73155410	0.91[AFR][1000 genomes]
rs73155434	0.93[AFR][1000 genomes]
rs73155446	0.85[AFR][1000 genomes]
rs73155478	0.84[AFR][1000 genomes]
rs73157407	0.87[AFR][1000 genomes]
rs73157426	0.91[AFR][1000 genomes]
rs73776061	0.81[AFR][1000 genomes]
rs7707061	1.00[ASW][hapmap];0.89[LWK][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes]
rs7727349	0.88[LWK][hapmap]
rs7732611	0.87[AFR][1000 genomes]
rs963689	0.84[AFR][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	nsv882415	chr5:98134186-98312447	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv882416	chr5:98146106-98312447	Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv537818	chr5:98241627-98279192	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv537819	chr5:98253348-98299646	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98200000-98263000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:98215000-98263000	Weak transcription	Esophagus	oesophagus
3	chr5:98225800-98258400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:98228200-98259200	Weak transcription	Spleen	Spleen
5	chr5:98228400-98259200	Weak transcription	Gastric	stomach
6	chr5:98228400-98259400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr5:98228400-98263000	Weak transcription	Aorta	Aorta
8	chr5:98232000-98258200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:98232000-98259200	Weak transcription	Pancreas	Pancrea
10	chr5:98235000-98262600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:98235200-98261600	Weak transcription	Fetal Kidney	kidney
12	chr5:98235400-98262600	Weak transcription	Fetal Brain Male	brain
13	chr5:98236000-98256800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:98236400-98256600	Weak transcription	Lung	lung
15	chr5:98236400-98258400	Weak transcription	Brain Germinal Matrix	brain
16	chr5:98236400-98263200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:98236600-98257600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:98236600-98259000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:98236600-98261000	Weak transcription	Small Intestine	intestine
20	chr5:98236600-98261600	Weak transcription	Fetal Brain Female	brain
21	chr5:98236600-98263000	Weak transcription	Ovary	ovary
22	chr5:98236800-98256000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:98236800-98263000	Weak transcription	Brain Substantia Nigra	brain
24	chr5:98237000-98256000	Weak transcription	HSMMtube	muscle
25	chr5:98237000-98258600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:98237000-98259200	Weak transcription	Colonic Mucosa	Colon
27	chr5:98240200-98263200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr5:98240800-98255000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr5:98240800-98263000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:98242000-98255400	Weak transcription	Primary B cells from cord blood	blood
31	chr5:98243200-98255400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:98244400-98258400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:98245600-98256000	Weak transcription	NHDF-Ad	bronchial
34	chr5:98247400-98256200	Weak transcription	HUVEC	blood vessel
35	chr5:98247400-98256800	Weak transcription	Fetal Heart	heart
36	chr5:98247400-98256800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr5:98247400-98258400	Weak transcription	Right Ventricle	heart
38	chr5:98247400-98258800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr5:98247400-98259600	Weak transcription	Brain Anterior Caudate	brain
40	chr5:98247400-98262600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr5:98247600-98256800	Weak transcription	Brain Angular Gyrus	brain
42	chr5:98247600-98262200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr5:98247600-98262600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr5:98248000-98261600	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr5:98248400-98255400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:98248400-98255600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr5:98249000-98255200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr5:98249000-98255400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr5:98249000-98258400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:98249000-98261400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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