Variant report

Variant	rs325198
Chromosome Location	chr5:98277723-98277724
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:98272097..98275128-chr5:98275593..98280478,6	MCF-7	breast:
2	chr5:98276533..98278644-chr5:98288923..98290589,2	K562	blood:
3	chr5:98263406..98266421-chr5:98277549..98281338,5	MCF-7	breast:
4	chr5:98269604..98273895-chr5:98275576..98277950,6	K562	blood:
5	chr5:98275762..98278033-chr5:98288005..98290423,2	K562	blood:
6	chr5:98276177..98277799-chr5:98286832..98289590,2	MCF-7	breast:
7	chr5:98261788..98268544-chr5:98272174..98280784,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153922	Chromatin interaction
ENSG00000248489	Chromatin interaction
ENSG00000241597	Chromatin interaction
ENSG00000200351	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10044680	1.00[EUR][1000 genomes]
rs10045317	1.00[EUR][1000 genomes]
rs10046011	1.00[EUR][1000 genomes]
rs10060286	1.00[EUR][1000 genomes]
rs13358830	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1382336	1.00[EUR][1000 genomes]
rs161743	1.00[EUR][1000 genomes]
rs162139	1.00[EUR][1000 genomes]
rs162141	1.00[EUR][1000 genomes]
rs162142	1.00[EUR][1000 genomes]
rs162143	1.00[EUR][1000 genomes]
rs162157	1.00[EUR][1000 genomes]
rs162160	1.00[EUR][1000 genomes]
rs162162	1.00[EUR][1000 genomes]
rs170579	1.00[EUR][1000 genomes]
rs17166397	1.00[EUR][1000 genomes]
rs17166450	1.00[EUR][1000 genomes]
rs17166454	1.00[EUR][1000 genomes]
rs179175	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1828171	1.00[EUR][1000 genomes]
rs28782775	1.00[EUR][1000 genomes]
rs325216	1.00[EUR][1000 genomes]
rs327801	1.00[EUR][1000 genomes]
rs327802	1.00[EUR][1000 genomes]
rs327805	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs451883	1.00[EUR][1000 genomes]
rs57969582	1.00[EUR][1000 genomes]
rs59156696	1.00[EUR][1000 genomes]
rs61578983	1.00[EUR][1000 genomes]
rs6891520	1.00[EUR][1000 genomes]
rs73151499	1.00[EUR][1000 genomes]
rs73153514	1.00[EUR][1000 genomes]
rs73153532	1.00[EUR][1000 genomes]
rs73155421	1.00[EUR][1000 genomes]
rs73155423	1.00[EUR][1000 genomes]
rs7727696	1.00[EUR][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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98266200-98283600	Weak transcription	Colonic Mucosa	Colon
2	chr5:98266600-98291400	Weak transcription	Brain Germinal Matrix	brain
3	chr5:98266800-98278400	Weak transcription	Hela-S3	cervix
4	chr5:98266800-98283200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr5:98267400-98277800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:98272400-98278000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr5:98272600-98278600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr5:98273600-98277800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:98274600-98280000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr5:98274800-98278800	Weak transcription	HepG2	liver
11	chr5:98274800-98282800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:98274800-98297200	Weak transcription	Thymus	Thymus
13	chr5:98275800-98277800	Enhancers	Colon Smooth Muscle	Colon
14	chr5:98276000-98278000	Enhancers	Fetal Muscle Leg	muscle
15	chr5:98276000-98278600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr5:98276200-98278200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:98276200-98278800	Enhancers	Primary B cells from cord blood	blood
18	chr5:98276200-98281600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:98276400-98277800	Enhancers	Placenta	Placenta
20	chr5:98276400-98277800	Enhancers	Right Atrium	heart
21	chr5:98276400-98278200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr5:98276600-98282800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:98276800-98278000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:98277000-98277800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr5:98277000-98278800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:98277000-98279200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:98277200-98277800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr5:98277200-98278400	Weak transcription	Fetal Lung	lung
29	chr5:98277200-98280000	Weak transcription	Psoas Muscle	Psoas
30	chr5:98277200-98281200	Weak transcription	Right Ventricle	heart
31	chr5:98277200-98282000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr5:98277200-98283000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:98277400-98278000	Enhancers	K562	blood
34	chr5:98277400-98278800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr5:98277400-98279000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:98277400-98281600	Weak transcription	Brain Hippocampus Middle	brain
37	chr5:98277400-98282000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:98277400-98282000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr5:98277400-98282200	Weak transcription	Brain Substantia Nigra	brain
40	chr5:98277600-98278600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:98277600-98281400	Weak transcription	Left Ventricle	heart
42	chr5:98277600-98281800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr5:98277600-98283000	Weak transcription	HMEC	breast

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