Variant report

Variant	rs6973115
Chromosome Location	chr7:102587163-102587164
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102583269..102586173-chr7:102586196..102588152,2	K562	blood:
2	chr7:102586835..102589764-chr7:102713384..102716042,2	K562	blood:
3	chr7:102586889..102588859-chr7:102610741..102612720,2	K562	blood:
4	chr7:102583269..102585217-chr7:102586196..102590052,3	K562	blood:

Variant related genes	Relation type
ENSG00000161040	Chromatin interaction
ENSG00000170632	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10236090	0.89[AFR][1000 genomes]
rs10240915	0.81[AFR][1000 genomes]
rs10259205	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1100047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12671524	1.00[AMR][1000 genomes]
rs1916990	1.00[AMR][1000 genomes]
rs1969429	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2140621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2177550	1.00[AMR][1000 genomes]
rs28393249	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2898638	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4255065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4727558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6465883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6958533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6962336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs847653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs847654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs847655	1.00[AMR][1000 genomes]
rs847657	0.96[AFR][1000 genomes]
rs864709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv464667	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv608060	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr7:102573800-102591400	Weak transcription	Pancreas	Pancrea
2	chr7:102574000-102592200	Weak transcription	Fetal Intestine Large	intestine
3	chr7:102574600-102594400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:102577600-102587400	Weak transcription	Fetal Kidney	kidney
5	chr7:102579600-102587200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:102579600-102588600	Strong transcription	HSMM	muscle
7	chr7:102580200-102587400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:102580400-102588200	Weak transcription	HUVEC	blood vessel
9	chr7:102582600-102587400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:102582800-102590800	Weak transcription	Fetal Stomach	stomach
11	chr7:102583600-102587200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:102585000-102588000	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:102585400-102588600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:102585800-102588200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:102586000-102587600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:102586600-102588600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr7:102586800-102587600	Enhancers	Ovary	ovary
18	chr7:102586800-102587600	Weak transcription	K562	blood
19	chr7:102587000-102587400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:102587000-102589400	Weak transcription	NH-A	brain
21	chr7:102587000-102590400	Weak transcription	Fetal Lung	lung
22	chr7:102587000-102590800	Weak transcription	HSMMtube	muscle

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