Variant report

Variant	rs2445689
Chromosome Location	chr6:31826153-31826154
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31758879..31760783-chr6:31824444..31826875,2	K562	blood:
2	chr6:31800580..31812447-chr6:31823435..31837480,47	K562	blood:
3	chr6:31801090..31813654-chr6:31824519..31834411,41	MCF-7	breast:
4	chr6:31788461..31791125-chr6:31825621..31827331,2	K562	blood:
5	chr6:31631387..31634828-chr6:31824744..31828511,4	K562	blood:
6	chr6:31617566..31630444-chr6:31823885..31836000,84	K562	blood:
7	chr6:31795632..31798160-chr6:31824691..31826752,2	K562	blood:
8	chr6:31704564..31706667-chr6:31825357..31827075,2	K562	blood:
9	chr6:31800755..31815108-chr6:31823340..31833266,54	K562	blood:
10	chr6:31824043..31826980-chr6:31834536..31836163,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000204388	Chromatin interaction
ENSG00000201823	Chromatin interaction
ENSG00000201754	Chromatin interaction
ENSG00000213719	Chromatin interaction
ENSG00000227198	Chromatin interaction
ENSG00000204435	Chromatin interaction
ENSG00000204444	Chromatin interaction
ENSG00000204463	Chromatin interaction
ENSG00000204387	Chromatin interaction
ENSG00000204439	Chromatin interaction
ENSG00000204394	Chromatin interaction
ENSG00000263020	Chromatin interaction
ENSG00000204438	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2075800	0.84[EUR][1000 genomes]
rs2507954	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2736428	0.80[ASN][1000 genomes]
rs2736430	0.85[EUR][1000 genomes]
rs614549	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv884428	chr6:31728102-31870326	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
13	nsv884429	chr6:31730356-31837066	Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
14	nsv462872	chr6:31778272-31864304	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
15	nsv601945	chr6:31778272-31864304	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
16	nsv601950	chr6:31785438-32492308	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
17	nsv601951	chr6:31785438-32496748	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' 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	197 gene(s)	inside rSNPs	diseases
18	nsv884461	chr6:31785453-31827045	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers 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 target site	117 gene(s)	inside rSNPs	diseases
19	nsv601955	chr6:31785453-32484368	Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
20	nsv601956	chr6:31785453-32492308	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
21	nsv462874	chr6:31794592-31864304	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
22	nsv601959	chr6:31794592-31864304	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
23	nsv884463	chr6:31797422-31827045	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
24	nsv884468	chr6:31813235-31827045	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
25	nsv884470	chr6:31813898-31827045	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
26	nsv884471	chr6:31813898-31827286	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
27	nsv884472	chr6:31813898-31870856	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
28	nsv884473	chr6:31815779-31827045	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2445689	AIF1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31807000-31829200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:31807400-31829400	Weak transcription	Fetal Brain Male	brain
3	chr6:31807400-31829600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr6:31807800-31826600	Weak transcription	Right Ventricle	heart
5	chr6:31807800-31827800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr6:31808000-31826600	Weak transcription	Fetal Kidney	kidney
7	chr6:31808000-31827000	Weak transcription	Small Intestine	intestine
8	chr6:31808000-31829400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:31808000-31829400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:31808000-31829800	Weak transcription	Psoas Muscle	Psoas
11	chr6:31808200-31826800	Weak transcription	NHDF-Ad	bronchial
12	chr6:31808600-31826600	Weak transcription	Dnd41	blood
13	chr6:31808600-31827000	Weak transcription	NHEK	skin
14	chr6:31808600-31827600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:31808800-31826600	Weak transcription	Primary B cells from cord blood	blood
16	chr6:31808800-31826600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:31808800-31827200	Weak transcription	HMEC	breast
18	chr6:31808800-31827200	Weak transcription	HSMM	muscle
19	chr6:31808800-31829600	Weak transcription	HUVEC	blood vessel
20	chr6:31809000-31826600	Weak transcription	NHLF	lung
21	chr6:31809000-31827200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:31809000-31827200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr6:31809200-31826600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:31809200-31826600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr6:31809200-31827200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:31809200-31827200	Weak transcription	Colonic Mucosa	Colon
27	chr6:31809200-31827400	Weak transcription	Fetal Lung	lung
28	chr6:31809200-31829200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr6:31809400-31826400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr6:31809400-31827200	Weak transcription	Esophagus	oesophagus
31	chr6:31809600-31826600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:31810200-31826400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr6:31810200-31829600	Weak transcription	Right Atrium	heart
34	chr6:31819600-31826600	Weak transcription	NH-A	brain
35	chr6:31819600-31827400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr6:31819600-31827600	Weak transcription	Stomach Mucosa	stomach
37	chr6:31819600-31829800	Weak transcription	A549	lung
38	chr6:31820200-31826600	Weak transcription	Gastric	stomach
39	chr6:31820200-31827200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr6:31820200-31827400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:31821000-31826600	Weak transcription	HepG2	liver
42	chr6:31821000-31826800	Weak transcription	Colon Smooth Muscle	Colon
43	chr6:31821000-31827000	Weak transcription	GM12878-XiMat	blood
44	chr6:31822600-31826400	Weak transcription	Brain Germinal Matrix	brain
45	chr6:31823000-31828800	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr6:31823000-31829200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr6:31823200-31828800	Strong transcription	Adipose Nuclei	Adipose
48	chr6:31823200-31829200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:31823400-31826600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:31823400-31826800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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