Variant report

Variant	rs1283567
Chromosome Location	chr6:44236546-44236547
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr6:44235722-44236699	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTBP2	chr6:44235890-44236650	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr6:44235731-44236547	H1-neurons	neurons:	n/a	n/a
4	REST	chr6:44235753-44236832	H1-neurons	neurons:	n/a	n/a
5	SMC3	chr6:44235580-44236925	SK-N-SH	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:43857455..43859614-chr6:44235657..44237353,2	K562	blood:
2	chr6:44235250..44236905-chr6:44304916..44306810,16	MCF-7	breast:
3	chr6:44234643..44237474-chr6:44296098..44297940,2	MCF-7	breast:
4	chr6:44233082..44237547-chr6:44353791..44357282,5	MCF-7	breast:
5	chr6:44234588..44237594-chr6:44277478..44280850,3	MCF-7	breast:
6	chr6:44235750..44236849-chr6:44272248..44273140,3	MCF-7	breast:
7	chr6:44235926..44236686-chr6:44263668..44264282,2	K562	blood:
8	chr6:44235852..44236696-chr6:44437202..44438131,2	MCF-7	breast:
9	chr6:44235214..44237013-chr6:44305028..44307078,2	MCF-7	breast:

No data

Variant related genes	Relation type
NFKBIE	TF binding region
ENSG00000272442	TF binding region
TMEM151B	TF binding region
ENSG00000096401	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs3799962	0.83[ASN][1000 genomes]
rs483536	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs513688	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs524533	0.81[AMR][1000 genomes]
rs545970	0.83[AMR][1000 genomes]
rs571770	0.81[AMR][1000 genomes]
rs639728	0.90[ASN][1000 genomes]
rs651297	0.81[ASN][1000 genomes]
rs730775	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv885851	chr6:44178471-44240559	Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
3	nsv603003	chr6:44191920-44253765	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
5	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
7	nsv524398	chr6:44200953-44253765	Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
10	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
11	nsv885857	chr6:44223010-44250165	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44233400-44237000	Weak transcription	HMEC	breast
2	chr6:44233400-44237200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:44233400-44237400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:44233400-44237800	Weak transcription	Pancreas	Pancrea
5	chr6:44233400-44237800	Weak transcription	Right Ventricle	heart
6	chr6:44233600-44238000	Weak transcription	Right Atrium	heart
7	chr6:44234600-44237200	Weak transcription	Spleen	Spleen
8	chr6:44234800-44238000	Enhancers	GM12878-XiMat	blood
9	chr6:44235400-44237800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr6:44235800-44236600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:44235800-44236600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:44235800-44236600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr6:44235800-44237600	Enhancers	Brain Germinal Matrix	brain
14	chr6:44236000-44236600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr6:44236000-44236600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:44236000-44236600	Bivalent Enhancer	Fetal Thymus	thymus
17	chr6:44236000-44236800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
18	chr6:44236000-44236800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:44236000-44236800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr6:44236000-44236800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:44236000-44237000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:44236000-44237000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:44236000-44237200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr6:44236000-44237600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:44236000-44237600	Enhancers	Fetal Brain Male	brain
26	chr6:44236000-44237600	Enhancers	Fetal Brain Female	brain
27	chr6:44236200-44236600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:44236200-44236600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
29	chr6:44236200-44236800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:44236200-44236800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
31	chr6:44236200-44237200	Weak transcription	Brain Anterior Caudate	brain
32	chr6:44236200-44237800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:44236200-44238400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr6:44236400-44236600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
35	chr6:44236400-44236600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
36	chr6:44236400-44236600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
37	chr6:44236400-44237600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
38	chr6:44236400-44238800	Weak transcription	Brain Substantia Nigra	brain

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