Variant report

Variant	rs3136421
Chromosome Location	chr8:95445329-95445330
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95426007..95427555-chr8:95444022..95446517,2	MCF-7	breast:
2	chr8:95434502..95438276-chr8:95441146..95446197,5	K562	blood:
3	chr8:95443110..95445447-chr8:95447774..95450176,4	K562	blood:

Variant related genes	Relation type
ENSG00000265817	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10086307	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10086311	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10087221	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10089098	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10089982	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10090029	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10090628	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10093542	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10094155	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10094296	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10094298	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10094477	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10095474	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10095883	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10097080	0.81[AMR][1000 genomes]
rs10097107	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10098298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10098682	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10099076	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10102139	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10103436	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10104301	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10104637	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10104756	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10104797	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10105476	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10106455	1.00[EUR][1000 genomes]
rs10107320	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10110389	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10110995	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10111251	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10111789	1.00[AMR][1000 genomes]
rs10111845	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10111959	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10217108	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10441536	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10441537	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1055798	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12334369	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12334578	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334675	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12334783	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12334844	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12334990	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12335104	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13438933	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13438940	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13439154	1.00[EUR][1000 genomes]
rs13439301	0.81[AMR][1000 genomes]
rs13439558	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13439676	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2119461	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2381883	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28386976	1.00[EUR][1000 genomes]
rs28397775	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs28397924	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28406352	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28409018	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28420254	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28425652	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs28435991	0.81[AMR][1000 genomes]
rs28436849	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28449797	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28465569	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs28475734	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28480604	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28481457	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28498495	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28502182	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28524089	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28526027	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28539788	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28542193	1.00[EUR][1000 genomes]
rs28563951	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28564036	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28572173	1.00[EUR][1000 genomes]
rs28605692	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs28608052	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28634264	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28651529	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs28666401	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28681034	1.00[EUR][1000 genomes]
rs28775004	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28805925	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28829590	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28848914	0.92[EUR][1000 genomes]
rs28897138	1.00[AMR][1000 genomes]
rs4567002	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56859277	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57897120	1.00[EUR][1000 genomes]
rs6992902	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6998829	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695616	1.00[EUR][1000 genomes]
rs73695617	1.00[EUR][1000 genomes]
rs73695619	1.00[EUR][1000 genomes]
rs73695620	1.00[EUR][1000 genomes]
rs73695622	1.00[EUR][1000 genomes]
rs73695624	1.00[EUR][1000 genomes]
rs73698013	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7823715	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs8117	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs9297938	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1031480	chr8:95375696-95447407	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	esv3446413	chr8:95444376-95448274	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95393200-95447000	Weak transcription	K562	blood
2	chr8:95412200-95447200	Weak transcription	Fetal Thymus	thymus
3	chr8:95429600-95446200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:95430400-95447200	Weak transcription	Fetal Intestine Small	intestine
5	chr8:95430600-95446400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:95430600-95447000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:95430600-95447400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:95430800-95446400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:95431000-95445400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:95431000-95446800	Weak transcription	HMEC	breast
11	chr8:95431000-95447400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:95431000-95447400	Weak transcription	HSMM	muscle
13	chr8:95431000-95447400	Weak transcription	NHDF-Ad	bronchial
14	chr8:95431000-95448600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:95431000-95448600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr8:95432400-95478600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:95433600-95446400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr8:95433800-95447200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr8:95434000-95447400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr8:95438200-95447600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:95441400-95446400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:95441400-95446400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:95441400-95446400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:95441800-95446400	Weak transcription	Brain Germinal Matrix	brain
25	chr8:95441800-95448600	Weak transcription	Hela-S3	cervix
26	chr8:95442000-95447600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:95442200-95447200	Weak transcription	Right Ventricle	heart
28	chr8:95442200-95447200	Weak transcription	HUVEC	blood vessel
29	chr8:95442400-95447200	Weak transcription	Fetal Kidney	kidney
30	chr8:95442600-95465400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr8:95443000-95445600	Strong transcription	Dnd41	blood
32	chr8:95443200-95446000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:95443200-95446400	Weak transcription	Fetal Lung	lung
34	chr8:95443200-95447200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr8:95443200-95447200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr8:95443400-95446000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:95443600-95446400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:95443600-95446600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:95443800-95446400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr8:95444000-95447200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr8:95444000-95447200	Weak transcription	NH-A	brain
42	chr8:95444000-95447400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr8:95444000-95447400	Weak transcription	NHEK	skin
44	chr8:95444000-95448800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:95444200-95446600	Weak transcription	Brain Anterior Caudate	brain
46	chr8:95444400-95447200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:95444600-95445400	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr8:95444600-95447200	Weak transcription	Adipose Nuclei	Adipose
49	chr8:95444600-95447200	Weak transcription	Ovary	ovary
50	chr8:95444800-95449600	Active TSS	GM12878-XiMat	blood

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