Variant report

Variant	rs6830203
Chromosome Location	chr4:147575403-147575404
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:147569955..147572256-chr4:147575383..147578342,2	K562	blood:
2	chr4:147569383..147571342-chr4:147575306..147577219,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17022075	1.00[EUR][1000 genomes]
rs28397039	1.00[EUR][1000 genomes]
rs28694531	1.00[EUR][1000 genomes]
rs55789811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55979124	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56925901	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56939845	1.00[EUR][1000 genomes]
rs59895059	1.00[EUR][1000 genomes]
rs6825623	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6843989	1.00[EUR][1000 genomes]
rs6857438	1.00[EUR][1000 genomes]
rs73852704	1.00[EUR][1000 genomes]
rs73852707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852734	1.00[EUR][1000 genomes]
rs73852869	1.00[EUR][1000 genomes]
rs73852883	1.00[EUR][1000 genomes]
rs73852895	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73855650	1.00[EUR][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	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv830107	chr4:147452434-147635720	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv880238	chr4:147469559-147617963	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	esv2753640	chr4:147538395-147641395	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	esv2754145	chr4:147538395-147641395	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147574200-147575800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
2	chr4:147575000-147575600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
3	chr4:147575200-147575600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
4	chr4:147575200-147575800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:147575400-147575600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:147575400-147575600	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:147575400-147575600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
8	chr4:147575400-147575800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:147575400-147575800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
10	chr4:147575400-147575800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
11	chr4:147575400-147575800	Active TSS	Adipose Nuclei	Adipose
12	chr4:147575400-147576000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
13	chr4:147575400-147576000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:147575400-147576400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:147575400-147576600	Bivalent/Poised TSS	NHDF-Ad	bronchial
16	chr4:147575400-147576800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:147575400-147576800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:147575400-147576800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
19	chr4:147575400-147576800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
20	chr4:147575400-147576800	Active TSS	Right Atrium	heart
21	chr4:147575400-147576800	Bivalent/Poised TSS	NH-A	brain
22	chr4:147575400-147577000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
23	chr4:147575400-147577000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
24	chr4:147575400-147577000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach

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