Variant report

Variant	rs9450293
Chromosome Location	chr6:86246400-86246401
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	CTCF	chr6:86246260-86246410	AoAF	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:86244402..86246705-chr6:86351828..86353927,2	K562	blood:
2	chr6:86246140..86247926-chr6:86387829..86390203,2	K562	blood:
3	chr6:86246106..86247862-chr6:86386298..86390203,3	K562	blood:
4	chr6:86245425..86248526-chr6:86302419..86304294,3	MCF-7	breast:

Variant related genes	Relation type
SNX14	TF binding region
ENSG00000203875	Chromatin interaction
ENSG00000135316	Chromatin interaction
ENSG00000135317	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs9450291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9450297	1.00[EUR][1000 genomes]
rs9450301	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017418	chr6:85344786-86259540	Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv538347	chr6:85344786-86259540	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1022445	chr6:85972678-86392968	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv538349	chr6:85972678-86392968	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	esv3326486	chr6:86020165-86292456	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv3435075	chr6:86052235-86271910	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv463937	chr6:86114766-86264374	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv604092	chr6:86114766-86264374	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv520112	chr6:86144875-86247759	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv886333	chr6:86199243-86289415	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv463939	chr6:86205323-86279737	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv470839	chr6:86205323-86279737	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv604093	chr6:86205323-86279737	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv886334	chr6:86214507-86394403	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
15	esv1792638	chr6:86224053-86336300	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
16	nsv516516	chr6:86234835-86278691	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86208800-86284600	Weak transcription	Small Intestine	intestine
2	chr6:86208800-86289200	Weak transcription	Pancreas	Pancrea
3	chr6:86211400-86246400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:86212000-86246600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr6:86218000-86260200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:86218400-86266200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:86220200-86252400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:86220200-86257200	Weak transcription	Fetal Heart	heart
9	chr6:86221800-86285800	Weak transcription	Fetal Brain Male	brain
10	chr6:86222200-86249800	Weak transcription	Aorta	Aorta
11	chr6:86222600-86289400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:86223200-86260200	Weak transcription	Lung	lung
13	chr6:86223400-86262800	Weak transcription	Stomach Mucosa	stomach
14	chr6:86223400-86285000	Weak transcription	Brain Substantia Nigra	brain
15	chr6:86223800-86262600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr6:86224000-86252600	Weak transcription	Brain Germinal Matrix	brain
17	chr6:86224000-86255800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:86224000-86279000	Weak transcription	NHLF	lung
19	chr6:86224200-86302600	Weak transcription	Colonic Mucosa	Colon
20	chr6:86224400-86252600	Weak transcription	Colon Smooth Muscle	Colon
21	chr6:86227800-86252400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr6:86228600-86246400	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr6:86229800-86246400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr6:86230000-86263000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:86230400-86246600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:86230400-86246600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:86230600-86246800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr6:86231000-86246400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:86231200-86285000	Weak transcription	Hela-S3	cervix
30	chr6:86233000-86253800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr6:86233000-86257000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr6:86233400-86257800	Weak transcription	Ovary	ovary
33	chr6:86233400-86262200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr6:86233600-86262400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:86233800-86289200	Weak transcription	Spleen	Spleen
36	chr6:86234000-86261000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:86234200-86251600	Weak transcription	Dnd41	blood
38	chr6:86236600-86251800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr6:86236600-86255600	Weak transcription	HSMMtube	muscle
40	chr6:86236600-86279000	Weak transcription	HMEC	breast
41	chr6:86237200-86246400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:86239000-86252400	Weak transcription	Esophagus	oesophagus
43	chr6:86241400-86283600	Weak transcription	Fetal Kidney	kidney
44	chr6:86243000-86246600	Strong transcription	Primary hematopoietic stem cells	blood
45	chr6:86243200-86285200	Weak transcription	Psoas Muscle	Psoas
46	chr6:86243200-86286000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr6:86243400-86251200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:86243400-86256800	Weak transcription	Brain Hippocampus Middle	brain
49	chr6:86243400-86257000	Weak transcription	A549	lung
50	chr6:86243400-86269600	Weak transcription	Brain Anterior Caudate	brain

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