Variant report

Variant	rs6944547
Chromosome Location	chr7:26489001-26489002
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:26485853..26489218-chr7:26491458..26493571,3	K562	blood:
2	chr7:26429796..26432274-chr7:26488274..26490768,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs60121157	0.90[AFR][1000 genomes]
rs73289021	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26481600-26490400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr7:26481600-26491200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:26481600-26498400	Weak transcription	Brain Germinal Matrix	brain
4	chr7:26481800-26490200	Weak transcription	Fetal Kidney	kidney
5	chr7:26487000-26489400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:26487200-26491200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:26487400-26490400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:26487600-26491000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr7:26487600-26497600	Weak transcription	Fetal Lung	lung
10	chr7:26487800-26491200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:26488400-26489400	Enhancers	Lung	lung
12	chr7:26488400-26489400	Enhancers	Pancreas	Pancrea
13	chr7:26488600-26489600	Enhancers	HepG2	liver
14	chr7:26488600-26490200	Enhancers	NH-A	brain
15	chr7:26488800-26489200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:26488800-26489400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr7:26488800-26489600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:26488800-26489600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:26488800-26490200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:26488800-26490200	Enhancers	HMEC	breast
21	chr7:26488800-26490400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:26489000-26489200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:26489000-26489400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:26489000-26489400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:26489000-26489400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:26489000-26489400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:26489000-26489400	Enhancers	Fetal Muscle Trunk	muscle
28	chr7:26489000-26489400	Enhancers	Spleen	Spleen
29	chr7:26489000-26489600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr7:26489000-26489600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr7:26489000-26489600	Flanking Active TSS	A549	lung
32	chr7:26489000-26489600	Enhancers	Hela-S3	cervix
33	chr7:26489000-26489600	Flanking Active TSS	HUVEC	blood vessel
34	chr7:26489000-26489600	Enhancers	NHDF-Ad	bronchial
35	chr7:26489000-26489800	Enhancers	Fetal Stomach	stomach
36	chr7:26489000-26490000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:26489000-26490200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:26489000-26490200	Enhancers	NHEK	skin
39	chr7:26489000-26490400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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