Variant report

Variant	rs704480
Chromosome Location	chr6:57091166-57091167
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:57035422..57037209-chr6:57089441..57091724,2	K562	blood:
2	chr6:57090172..57091708-chr6:57176939..57178620,2	K562	blood:
3	chr6:57089755..57093412-chr6:57094314..57097096,3	K562	blood:
4	chr6:57085083..57088609-chr6:57088640..57091754,5	K562	blood:
5	chr6:57089755..57092031-chr6:57095461..57097946,2	K562	blood:

Variant related genes	Relation type
ENSG00000112210	Chromatin interaction
ENSG00000226803	Chromatin interaction
ENSG00000112208	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs223286	0.91[ASN][1000 genomes]
rs223287	0.91[ASN][1000 genomes]
rs35515619	0.82[EUR][1000 genomes]
rs494410	0.91[ASN][1000 genomes]
rs599227	0.91[ASN][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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv462949	chr6:56973902-57098973	ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv603190	chr6:56973902-57098973	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr6:57087600-57091400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:57088000-57091400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:57088000-57091600	Enhancers	Colon Smooth Muscle	Colon
4	chr6:57088200-57091200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:57088200-57091400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:57089200-57091200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:57089600-57091400	Enhancers	Rectal Smooth Muscle	rectum
8	chr6:57089600-57091600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr6:57090200-57091200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr6:57090200-57091600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:57090400-57091600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:57090600-57091600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:57090600-57091600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:57090800-57091600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:57090800-57091800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr6:57091000-57091400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr6:57091000-57091400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:57091000-57091400	Enhancers	Ovary	ovary
19	chr6:57091000-57091600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr6:57091000-57091600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:57091000-57091800	Enhancers	NHEK	skin
22	chr6:57091000-57092200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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