Variant report

Variant	rs10005142
Chromosome Location	chr4:78118149-78118150
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:78116886..78120148-chr4:78122009..78124874,3	K562	blood:
2	chr4:78114444..78117366-chr4:78117947..78121379,3	K562	blood:
3	chr4:78107295..78109622-chr4:78117627..78119992,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138764	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10009384	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10010290	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10017014	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10018359	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10020351	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10026129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10026795	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10030727	0.83[EUR][1000 genomes]
rs10030735	0.83[EUR][1000 genomes]
rs10030867	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10030957	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10856957	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097728	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11097729	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11097730	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11097741	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12500115	0.82[EUR][1000 genomes]
rs12504397	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12508219	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1477314	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1559119	0.83[ASN][1000 genomes]
rs1559122	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17397604	0.83[EUR][1000 genomes]
rs1968235	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2042228	0.83[ASN][1000 genomes]
rs28503908	0.83[EUR][1000 genomes]
rs4285107	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4504280	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4536958	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4538513	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4582179	0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4582180	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859475	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4859477	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4859751	0.83[EUR][1000 genomes]
rs4859752	0.93[EUR][1000 genomes]
rs4859753	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859754	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859755	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4859758	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55663411	0.83[EUR][1000 genomes]
rs6532904	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6532919	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6532921	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6822794	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6838744	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6840915	0.83[EUR][1000 genomes]
rs6844009	0.83[ASN][1000 genomes]
rs6845599	0.80[EUR][1000 genomes]
rs6857792	0.83[EUR][1000 genomes]
rs7690427	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000730	chr4:78109138-78210296	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78112000-78120600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:78112200-78120600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:78113600-78118600	Weak transcription	NHEK	skin
4	chr4:78113600-78120400	Weak transcription	HMEC	breast
5	chr4:78113800-78120400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:78115400-78119200	Enhancers	Primary B cells from peripheral blood	blood
7	chr4:78115800-78120400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr4:78116400-78118600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:78116400-78124600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:78117200-78119200	Enhancers	Primary B cells from cord blood	blood
11	chr4:78117400-78118400	Enhancers	Primary T cells from cord blood	blood
12	chr4:78117400-78118800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:78117400-78119200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr4:78117400-78119200	Enhancers	Fetal Muscle Leg	muscle
15	chr4:78117400-78119600	Enhancers	Placenta	Placenta
16	chr4:78117800-78118800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:78117800-78118800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr4:78117800-78118800	Enhancers	Primary hematopoietic stem cells	blood
19	chr4:78117800-78119000	Enhancers	GM12878-XiMat	blood
20	chr4:78117800-78119200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:78118000-78118600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:78118000-78118600	Enhancers	HSMMtube	muscle
23	chr4:78118000-78118800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:78118000-78118800	Enhancers	Fetal Thymus	thymus
25	chr4:78118000-78119200	Enhancers	Adipose Nuclei	Adipose
26	chr4:78118000-78119200	Enhancers	Esophagus	oesophagus

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