Variant report

Variant	rs7697954
Chromosome Location	chr4:78117049-78117050
allele	A/C
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	chr4:78108762..78112124-chr4:78114726..78117506,3	K562	blood:
3	chr4:78077628..78079889-chr4:78114181..78117091,2	MCF-7	breast:
4	chr4:78114444..78117366-chr4:78117947..78121379,3	K562	blood:

Variant related genes	Relation type
ENSG00000138764	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17002421	0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17002448	1.00[EUR][1000 genomes]
rs17002449	1.00[EUR][1000 genomes]
rs17002454	1.00[EUR][1000 genomes]
rs17002456	1.00[EUR][1000 genomes]
rs2015393	1.00[EUR][1000 genomes]
rs2161355	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28669186	1.00[EUR][1000 genomes]
rs56752313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60329200	1.00[EUR][1000 genomes]
rs6532891	0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6811629	1.00[EUR][1000 genomes]
rs6812471	1.00[EUR][1000 genomes]
rs6817538	1.00[EUR][1000 genomes]
rs6820366	1.00[EUR][1000 genomes]
rs6829872	1.00[EUR][1000 genomes]
rs6840204	0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6854976	1.00[EUR][1000 genomes]
rs72863245	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72863263	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72863275	1.00[EUR][1000 genomes]
rs72863276	1.00[EUR][1000 genomes]
rs72863279	1.00[EUR][1000 genomes]
rs72863282	1.00[EUR][1000 genomes]
rs72863284	1.00[EUR][1000 genomes]
rs72863287	1.00[EUR][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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78112000-78117400	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:78112000-78120600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:78112200-78120600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:78113600-78118600	Weak transcription	NHEK	skin
5	chr4:78113600-78120400	Weak transcription	HMEC	breast
6	chr4:78113800-78120400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:78115400-78119200	Enhancers	Primary B cells from peripheral blood	blood
8	chr4:78115800-78120400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr4:78116200-78117200	Enhancers	GM12878-XiMat	blood
10	chr4:78116200-78117400	Weak transcription	Placenta	Placenta
11	chr4:78116200-78117400	Weak transcription	Thymus	Thymus
12	chr4:78116200-78118000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:78116400-78117400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:78116400-78117400	Weak transcription	Primary T cells from cord blood	blood
15	chr4:78116400-78117400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr4:78116400-78117800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr4:78116400-78117800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr4:78116400-78117800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:78116400-78118600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:78116400-78124600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr4:78116600-78118000	Weak transcription	Fetal Thymus	thymus
22	chr4:78116800-78117200	Weak transcription	Primary B cells from cord blood	blood

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