Variant report

Variant	rs187995
Chromosome Location	chr6:27842317-27842318
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:27837920-27842326	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:57920063..57922392-chr6:27841925..27843935,2	MCF-7	breast:
2	chr6:26030829..26032499-chr6:27840625..27843168,2	MCF-7	breast:

Variant related genes	Relation type
HIST1H3I	TF binding region
HIST1H4L	TF binding region
ENSG00000124693	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs169263	1.00[AMR][1000 genomes]
rs200470	1.00[EUR][1000 genomes]
rs200472	1.00[EUR][1000 genomes]
rs200947	1.00[EUR][1000 genomes]
rs200955	1.00[EUR][1000 genomes]
rs200959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs200970	1.00[AMR][1000 genomes]
rs200982	1.00[EUR][1000 genomes]
rs200984	1.00[EUR][1000 genomes]
rs201003	1.00[EUR][1000 genomes]
rs201005	1.00[EUR][1000 genomes]
rs2200870	0.83[AMR][1000 genomes]
rs55965630	0.83[AMR][1000 genomes]
rs56221999	1.00[AMR][1000 genomes]
rs56262840	1.00[AMR][1000 genomes]
rs56342784	1.00[EUR][1000 genomes]
rs56366090	0.83[AMR][1000 genomes]
rs58700542	1.00[AMR][1000 genomes]
rs59716769	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61275289	0.83[AMR][1000 genomes]
rs73739606	1.00[AMR][1000 genomes]
rs73739685	1.00[AMR][1000 genomes]
rs73739773	0.83[AMR][1000 genomes]
rs73740805	0.83[AMR][1000 genomes]
rs73740842	0.83[AMR][1000 genomes]
rs73742455	1.00[AMR][1000 genomes]
rs7740062	1.00[EUR][1000 genomes]
rs9468198	1.00[EUR][1000 genomes]
rs9468205	1.00[EUR][1000 genomes]
rs9468228	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	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases
3	nsv1017440	chr6:27734824-27864277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	370 gene(s)	inside rSNPs	diseases
4	nsv1022173	chr6:27734824-27959408	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
5	nsv883512	chr6:27748631-27969004	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
6	nsv601208	chr6:27810626-27969004	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	237 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27838600-27842400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr6:27838800-27842400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:27839000-27842400	Active TSS	Thymus	Thymus
4	chr6:27839000-27842800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr6:27839800-27842400	Active TSS	Brain Germinal Matrix	brain
6	chr6:27840600-27842400	Flanking Active TSS	Fetal Thymus	thymus
7	chr6:27841400-27842400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
8	chr6:27841400-27842400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr6:27841400-27842400	Flanking Active TSS	Dnd41	blood
10	chr6:27841600-27842400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:27841800-27842400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr6:27841800-27842400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr6:27841800-27842400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:27841800-27842600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr6:27841800-27843800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:27841800-27847000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:27842000-27842400	Enhancers	Primary B cells from cord blood	blood
18	chr6:27842000-27842400	Enhancers	Primary B cells from peripheral blood	blood
19	chr6:27842000-27842400	Enhancers	Fetal Muscle Trunk	muscle
20	chr6:27842000-27842600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:27842000-27842600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr6:27842000-27842600	Enhancers	Primary hematopoietic stem cells	blood
23	chr6:27842000-27842600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:27842200-27842400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:27842200-27842400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:27842200-27842400	ZNF genes & repeats	Fetal Stomach	stomach
27	chr6:27842200-27842400	Enhancers	Gastric	stomach
28	chr6:27842200-27842400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr6:27842200-27842600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:27842200-27842600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:27842200-27857000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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