Variant report

Variant	rs6830315
Chromosome Location	chr4:187682650-187682651
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:187678906..187683717-chr4:187759273..187763131,7	K562	blood:
2	chr4:187643605..187645430-chr4:187682504..187684647,2	MCF-7	breast:
3	chr4:187675660..187683717-chr4:187759108..187768484,20	K562	blood:
4	chr4:187680951..187683409-chr4:187740602..187742752,2	K562	blood:
5	chr4:187670176..187676753-chr4:187680368..187684248,9	K562	blood:
6	chr4:187681629..187684562-chr4:187726628..187729444,2	K562	blood:

Variant related genes	Relation type
ENSG00000083857	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11943296	1.00[AMR][1000 genomes]
rs1567872	1.00[AMR][1000 genomes]
rs184425	1.00[AMR][1000 genomes]
rs2060140	1.00[AMR][1000 genomes]
rs322413	1.00[AMR][1000 genomes]
rs322414	1.00[AMR][1000 genomes]
rs322422	1.00[AMR][1000 genomes]
rs323419	1.00[AMR][1000 genomes]
rs325030	1.00[AMR][1000 genomes]
rs34020342	1.00[AMR][1000 genomes]
rs366525	1.00[AMR][1000 genomes]
rs378639	1.00[AMR][1000 genomes]
rs403263	1.00[AMR][1000 genomes]
rs411852	1.00[AMR][1000 genomes]
rs412064	1.00[AMR][1000 genomes]
rs56099296	1.00[AMR][1000 genomes]
rs59816439	1.00[AMR][1000 genomes]
rs61733571	1.00[AMR][1000 genomes]
rs6553023	1.00[AMR][1000 genomes]
rs73015674	1.00[AMR][1000 genomes]
rs73017537	1.00[AMR][1000 genomes]
rs73876306	1.00[AMR][1000 genomes]
rs73876308	1.00[AMR][1000 genomes]
rs73876312	1.00[AMR][1000 genomes]
rs73876313	1.00[AMR][1000 genomes]
rs73876314	1.00[AMR][1000 genomes]
rs73876315	1.00[AMR][1000 genomes]
rs7697770	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1024705	chr4:187534005-187849091	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1026970	chr4:187537418-187913351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv596440	chr4:187538133-187848075	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1031603	chr4:187636716-188020741	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv1017068	chr4:187660972-187698928	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv537439	chr4:187660972-187698928	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1025421	chr4:187663010-187701918	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv537440	chr4:187663010-187701918	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv880401	chr4:187668795-188047143	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	esv3335862	chr4:187679758-187722391	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187677200-187685800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:187679600-187682800	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:187679800-187682800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:187681000-187683000	Enhancers	HMEC	breast
5	chr4:187681200-187683200	Enhancers	NHDF-Ad	bronchial
6	chr4:187681200-187684400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr4:187681400-187683000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:187681600-187682800	Enhancers	Osteobl	bone
9	chr4:187681600-187683000	Enhancers	HSMM	muscle
10	chr4:187681600-187683200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:187681600-187683600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:187681800-187682800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:187681800-187683000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:187681800-187683400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:187681800-187684800	Enhancers	HepG2	liver
16	chr4:187682000-187683600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:187682200-187683000	Enhancers	HSMMtube	muscle
18	chr4:187682200-187683200	Enhancers	K562	blood
19	chr4:187682200-187686600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr4:187682400-187683000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr4:187682400-187683000	Enhancers	Adipose Nuclei	Adipose
22	chr4:187682400-187685800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:187682400-187686400	Weak transcription	A549	lung
24	chr4:187682400-187686400	Weak transcription	NH-A	brain
25	chr4:187682400-187686800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:187682600-187683000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:187682600-187686000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr4:187682600-187686800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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