Variant report

Variant	rs16876156
Chromosome Location	chr6:35419402-35419403
allele	A/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	MXI1	chr6:35419113-35421801	SK-N-SH	brain:	n/a	n/a
2	NFIC	chr6:35419223-35420542	ECC-1	luminal epithelium:	n/a	chr6:35419452-35419468 chr6:35419450-35419467 chr6:35419451-35419468 chr6:35419450-35419466 chr6:35419979-35420007
3	SPI1	chr6:35419394-35419576	K562	blood:	n/a	n/a
4	ELF1	chr6:35419203-35419591	K562	blood:	n/a	chr6:35419356-35419369

No.	Distal block	Cell Line	Cell type
1	chr6:35418643..35423313-chr6:35462563..35468017,10	K562	blood:
2	chr6:35259972..35262009-chr6:35419216..35421184,2	MCF-7	breast:
3	chr6:35415818..35424678-chr6:35432486..35440672,36	K562	blood:
4	chr6:35309852..35312289-chr6:35417832..35421264,4	K562	blood:
5	chr6:35418617..35424875-chr6:35434196..35438070,12	MCF-7	breast:
6	chr6:35308697..35314051-chr6:35417510..35421585,8	K562	blood:
7	chr6:35260655..35262977-chr6:35418464..35420099,2	K562	blood:
8	chr6:35417496..35419930-chr6:35463187..35465266,3	MCF-7	breast:
9	chr6:35262981..35267829-chr6:35418945..35424124,7	K562	blood:
10	chr6:35309118..35313462-chr6:35418133..35422102,7	MCF-7	breast:

Variant related genes	Relation type
FANCE	TF binding region
ENSG00000112033	Chromatin interaction
ENSG00000065029	Chromatin interaction
ENSG00000198755	Chromatin interaction
ENSG00000023892	Chromatin interaction
ENSG00000007866	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11964048	0.82[ASN][1000 genomes]
rs11967862	1.00[EUR][1000 genomes]
rs11967869	1.00[EUR][1000 genomes]
rs17847863	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17847869	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3213573	1.00[EUR][1000 genomes]
rs3800375	1.00[EUR][1000 genomes]
rs45532239	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45571538	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45600543	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73415611	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830641	chr6:35282534-35440603	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
2	nsv602909	chr6:35356640-35423489	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv528351	chr6:35377922-35465786	Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
4	nsv885799	chr6:35378778-35442397	Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
5	nsv462908	chr6:35378778-35457396	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
6	nsv602910	chr6:35378778-35457396	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
7	nsv519370	chr6:35378778-35537406	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35411200-35419600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:35414200-35419600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:35414400-35419600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:35418600-35419600	Enhancers	Hela-S3	cervix
5	chr6:35418800-35419600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr6:35419000-35419600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr6:35419000-35419600	Enhancers	Primary B cells from peripheral blood	blood
8	chr6:35419000-35419600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr6:35419000-35419600	Enhancers	Fetal Lung	lung
10	chr6:35419000-35419600	Enhancers	Placenta	Placenta
11	chr6:35419200-35419600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
12	chr6:35419200-35419600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:35419200-35419600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:35419200-35419600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr6:35419200-35419600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:35419200-35419600	Enhancers	Primary B cells from cord blood	blood
17	chr6:35419200-35419600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr6:35419200-35419600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:35419200-35419600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr6:35419200-35419600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:35419200-35419600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr6:35419200-35419600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr6:35419200-35419600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:35419200-35419600	Enhancers	Brain Anterior Caudate	brain
25	chr6:35419200-35419600	Enhancers	Fetal Intestine Large	intestine
26	chr6:35419200-35419600	Enhancers	Fetal Stomach	stomach
27	chr6:35419200-35419600	Bivalent Enhancer	Fetal Thymus	thymus
28	chr6:35419200-35419600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr6:35419200-35419600	Enhancers	Right Ventricle	heart
30	chr6:35419200-35419800	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr6:35419200-35419800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr6:35419200-35419800	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr6:35419200-35419800	Flanking Active TSS	Dnd41	blood
34	chr6:35419200-35419800	Flanking Bivalent TSS/Enh	HepG2	liver
35	chr6:35419200-35420000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:35419200-35420000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:35419200-35420000	Enhancers	Placenta Amnion	Placenta Amnion
38	chr6:35419200-35420000	Enhancers	Spleen	Spleen
39	chr6:35419200-35420200	Enhancers	Liver	Liver
40	chr6:35419200-35420200	Enhancers	Stomach Mucosa	stomach
41	chr6:35419200-35420600	Active TSS	Rectal Smooth Muscle	rectum
42	chr6:35419200-35420800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:35419200-35421200	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr6:35419200-35421400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:35419400-35419600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
46	chr6:35419400-35419600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr6:35419400-35419600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:35419400-35419600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
49	chr6:35419400-35419600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
50	chr6:35419400-35419600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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