Variant report

Variant	rs2056198
Chromosome Location	chr4:48702955-48702956
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48685998..48688837-chr4:48699802..48703602,5	K562	blood:
2	chr4:48700525..48703151-chr4:48906796..48908721,2	MCF-7	breast:
3	chr4:48699623..48702132-chr4:48702246..48704804,2	K562	blood:
4	chr4:48699623..48702132-chr4:48702246..48705129,3	K562	blood:
5	chr4:48702489..48705093-chr4:48707646..48709743,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10034207	1.00[YRI][hapmap]
rs10049760	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs10805172	0.87[YRI][hapmap]
rs10938539	0.82[AFR][1000 genomes]
rs12500244	0.80[AFR][1000 genomes]
rs12500570	0.82[AFR][1000 genomes]
rs1533511	1.00[YRI][hapmap]
rs1702799	1.00[YRI][hapmap]
rs1712762	1.00[YRI][hapmap]
rs2138866	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs2572342	0.82[YRI][hapmap]
rs2940319	1.00[YRI][hapmap]
rs4235155	0.87[YRI][hapmap]
rs4558842	0.82[AFR][1000 genomes]
rs4695406	0.82[YRI][hapmap]
rs6853876	0.87[YRI][hapmap]
rs707720	0.82[AFR][1000 genomes]
rs7689293	0.87[YRI][hapmap]
rs7698064	1.00[YRI][hapmap]
rs776581	1.00[YRI][hapmap]
rs776583	1.00[YRI][hapmap]
rs776589	0.82[AFR][1000 genomes]
rs776595	0.82[YRI][hapmap]
rs938791	1.00[YRI][hapmap]
rs9994214	1.00[YRI][hapmap]
rs9998178	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv999203	chr4:48645887-48735512	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1802666	chr4:48646594-48721327	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1013914	chr4:48652784-48728934	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv537090	chr4:48652784-48728934	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv1796692	chr4:48686817-48726266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv1792683	chr4:48686817-48764009	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv1795181	chr4:48686817-48764009	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv1793455	chr4:48686817-48859142	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1010381	chr4:48701525-49309842	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48621200-48729400	Weak transcription	Thymus	Thymus
2	chr4:48686800-48708800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:48687000-48708400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:48687200-48708400	Weak transcription	Primary B cells from cord blood	blood
5	chr4:48690200-48705200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:48691600-48710400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:48695400-48711200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:48696600-48710600	Weak transcription	Lung	lung
9	chr4:48697200-48708600	Weak transcription	Left Ventricle	heart
10	chr4:48699800-48703000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:48700000-48703600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr4:48700000-48703800	Enhancers	Fetal Intestine Small	intestine
13	chr4:48700000-48704000	Enhancers	Fetal Intestine Large	intestine
14	chr4:48700200-48730800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:48700400-48705200	Weak transcription	Dnd41	blood
16	chr4:48700400-48713200	Weak transcription	Placenta	Placenta
17	chr4:48700400-48718800	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:48700600-48704000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:48700600-48708000	Weak transcription	Fetal Thymus	thymus
20	chr4:48700600-48708400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr4:48700600-48719600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:48700800-48708000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:48700800-48708800	Weak transcription	Ovary	ovary
24	chr4:48700800-48712200	Weak transcription	Brain Germinal Matrix	brain
25	chr4:48700800-48715600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr4:48701000-48708600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr4:48701000-48710400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:48701000-48710600	Weak transcription	Adipose Nuclei	Adipose
29	chr4:48701000-48711200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr4:48701000-48712000	Weak transcription	Right Ventricle	heart
31	chr4:48701000-48712200	Weak transcription	Fetal Heart	heart
32	chr4:48701000-48713000	Weak transcription	Fetal Brain Male	brain
33	chr4:48701000-48715200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr4:48701000-48729600	Weak transcription	Aorta	Aorta
35	chr4:48701200-48705200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr4:48701200-48708800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:48701200-48710600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr4:48701400-48705200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr4:48701400-48713600	Weak transcription	Fetal Brain Female	brain
40	chr4:48701600-48705400	Weak transcription	Brain Anterior Caudate	brain
41	chr4:48701600-48706000	Weak transcription	Stomach Mucosa	stomach
42	chr4:48701800-48703400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:48701800-48703400	Weak transcription	HepG2	liver
44	chr4:48701800-48705000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:48701800-48705000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:48701800-48705000	Weak transcription	Brain Hippocampus Middle	brain
47	chr4:48701800-48705200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:48701800-48705200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr4:48701800-48705400	Weak transcription	Psoas Muscle	Psoas
50	chr4:48701800-48710800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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