Variant report

Variant	rs1528548
Chromosome Location	chr4:99496607-99496608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99494205..99497159-chr4:99499484..99501729,2	MCF-7	breast:
2	chr4:99495926..99497504-chr4:99501942..99504413,2	MCF-7	breast:
3	chr4:99496585..99499120-chr4:99503712..99505800,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10489125	0.84[AMR][1000 genomes]
rs11930706	1.00[CHB][hapmap]
rs11938326	0.80[EUR][1000 genomes]
rs11938479	1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs17027639	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs17027645	1.00[AFR][1000 genomes]
rs17027662	1.00[AFR][1000 genomes]
rs17027799	0.84[AMR][1000 genomes]
rs17027806	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4699355	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4699657	1.00[JPT][hapmap]
rs62323627	0.84[AMR][1000 genomes]
rs62323629	0.81[AMR][1000 genomes]
rs62323632	0.84[AMR][1000 genomes]
rs62323639	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7666172	1.00[CHB][hapmap]
rs7670467	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs950152	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[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	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2760882	chr4:99460485-99521345	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99466800-99501600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:99479000-99506400	Weak transcription	Aorta	Aorta
3	chr4:99483400-99498800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:99485000-99501400	Weak transcription	HUVEC	blood vessel
5	chr4:99487200-99500000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr4:99487800-99498600	Weak transcription	NHLF	lung
7	chr4:99488000-99499000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:99488000-99499200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:99488200-99500200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:99489000-99498800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:99490200-99499000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:99490400-99499200	Weak transcription	Brain Germinal Matrix	brain
13	chr4:99490600-99498600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:99490600-99498800	Weak transcription	Stomach Mucosa	stomach
15	chr4:99490600-99501400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:99490800-99499600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr4:99490800-99499800	Weak transcription	Right Atrium	heart
18	chr4:99490800-99506600	Weak transcription	Esophagus	oesophagus
19	chr4:99490800-99509000	Weak transcription	HSMM	muscle
20	chr4:99491000-99503400	Weak transcription	Thymus	Thymus
21	chr4:99492000-99498600	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:99492000-99499200	Weak transcription	Osteobl	bone
23	chr4:99492400-99498800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:99492600-99497200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:99492600-99498600	Weak transcription	Brain Anterior Caudate	brain
26	chr4:99492600-99499800	Weak transcription	Spleen	Spleen
27	chr4:99492600-99500200	Weak transcription	Fetal Brain Female	brain
28	chr4:99492600-99501800	Weak transcription	Primary B cells from cord blood	blood
29	chr4:99492800-99497800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:99493200-99501400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr4:99493600-99498800	Weak transcription	Brain Hippocampus Middle	brain
32	chr4:99493600-99500400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr4:99493600-99501400	Weak transcription	Fetal Thymus	thymus
34	chr4:99493800-99498800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr4:99494000-99499200	Weak transcription	Fetal Lung	lung
36	chr4:99494200-99498600	Weak transcription	Brain Angular Gyrus	brain
37	chr4:99494200-99498600	Weak transcription	Brain Substantia Nigra	brain
38	chr4:99495200-99498600	Weak transcription	Fetal Kidney	kidney
39	chr4:99495200-99500200	Weak transcription	HMEC	breast
40	chr4:99495400-99496800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:99495400-99496800	Enhancers	Colon Smooth Muscle	Colon
42	chr4:99495400-99497000	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr4:99495600-99498600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr4:99495800-99498600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:99495800-99498600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr4:99495800-99498600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr4:99495800-99499000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr4:99495800-99499800	Weak transcription	NHEK	skin
49	chr4:99496000-99496800	Enhancers	Ovary	ovary
50	chr4:99496000-99496800	Enhancers	Stomach Smooth Muscle	stomach

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