Variant report

Variant	rs5872
Chromosome Location	chr6:31637734-31637735
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:31636602-31640237	K562	blood:	n/a	n/a
2	POLR2A	chr6:31637658-31637769	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr6:31635844-31637824	K562	blood:	n/a	n/a
4	HEY1	chr6:31636614-31637779	K562	blood:	n/a	n/a
5	POLR2A	chr6:31636948-31637798	K562	blood:	n/a	n/a
6	CTCF	chr6:31637543-31637871	T-47D	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31514014..31516004-chr6:31637492..31640233,2	MCF-7	breast:
2	chr6:31635402..31638010-chr6:31685424..31687042,2	MCF-7	breast:
3	chr6:31637076..31639095-chr6:31704178..31706177,2	MCF-7	breast:
4	chr6:31507927..31511187-chr6:31633283..31638231,4	MCF-7	breast:

No data

Variant related genes	Relation type
GPANK1	TF binding region
LY6G5B	TF binding region
ENSG00000265236	Chromatin interaction
ENSG00000204498	Chromatin interaction
ENSG00000204420	Chromatin interaction
ENSG00000213760	Chromatin interaction
ENSG00000198563	Chromatin interaction
ENSG00000213719	Chromatin interaction
ENSG00000254870	Chromatin interaction
ENSG00000234006	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13716	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2051552	0.80[AMR][1000 genomes]
rs2259571	0.82[AMR][1000 genomes]
rs2260000	0.84[AMR][1000 genomes]
rs2260050	0.87[AMR][1000 genomes]
rs2507957	0.81[AMR][1000 genomes]
rs2736172	0.83[AMR][1000 genomes]
rs2736176	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2844472	0.84[AMR][1000 genomes]
rs2857698	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3091280	0.80[AMR][1000 genomes]
rs707919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs707939	0.81[AMR][1000 genomes]
rs755714	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs805299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][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	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
2	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
3	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
4	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
5	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
6	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
7	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
8	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
9	nsv432868	chr6:31338844-31721033	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
10	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
11	nsv830627	chr6:31496214-31659950	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
12	nsv884418	chr6:31525448-31741078	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
13	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
14	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
15	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs5872	AIF1	Cis_1M	lymphoblastoid	RTeQTL
rs5872	CSNK2B	Cis_1M	lymphoblastoid	RTeQTL
rs5872	HLA-DQB1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31634200-31640000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:31634600-31639800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:31634800-31638800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:31634800-31641400	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr6:31634800-31641400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:31634800-31641400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:31634800-31641400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr6:31634800-31648200	Weak transcription	Right Atrium	heart
9	chr6:31635000-31637800	Genic enhancers	HepG2	liver
10	chr6:31635000-31640200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:31635000-31640800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
12	chr6:31635000-31641400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:31635000-31641400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:31635000-31641400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr6:31635000-31641400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:31635000-31641400	Strong transcription	Brain Cingulate Gyrus	brain
17	chr6:31635000-31641800	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:31635000-31641800	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr6:31635000-31642000	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:31635000-31642000	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr6:31635000-31642000	Strong transcription	Brain Inferior Temporal Lobe	brain
22	chr6:31635000-31642000	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr6:31635000-31642000	Strong transcription	Spleen	Spleen
24	chr6:31635000-31642200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr6:31635000-31642800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:31635000-31642800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr6:31635000-31643800	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr6:31635200-31639800	Strong transcription	Fetal Brain Male	brain
29	chr6:31635200-31640200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:31635200-31640200	Strong transcription	HUVEC	blood vessel
31	chr6:31635200-31640800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:31635200-31641200	Strong transcription	Esophagus	oesophagus
33	chr6:31635200-31641200	Strong transcription	Fetal Lung	lung
34	chr6:31635200-31641400	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr6:31635200-31641400	Strong transcription	Colonic Mucosa	Colon
36	chr6:31635200-31641600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:31635200-31641800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:31635200-31641800	Strong transcription	HSMMtube	muscle
39	chr6:31635200-31642000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:31635200-31642200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:31635200-31643600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr6:31635400-31639800	Strong transcription	Primary hematopoietic stem cells	blood
43	chr6:31635400-31640400	Strong transcription	NHDF-Ad	bronchial
44	chr6:31635400-31640800	Strong transcription	HMEC	breast
45	chr6:31635400-31641200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:31635400-31641400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:31635400-31641400	Strong transcription	Brain Angular Gyrus	brain
48	chr6:31635400-31641400	Strong transcription	Ovary	ovary
49	chr6:31635400-31641400	Strong transcription	Right Ventricle	heart
50	chr6:31635400-31641600	Strong transcription	Fetal Brain Female	brain

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