Variant report

Variant	rs13109968
Chromosome Location	chr4:87879360-87879361
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87875765..87890159-chr4:87922878..87933002,25	K562	blood:
2	chr4:87877779..87879941-chr4:87884017..87885915,2	K562	blood:
3	chr4:87860517..87862879-chr4:87877524..87879606,2	K562	blood:
4	chr4:87860293..87862516-chr4:87877340..87879546,2	MCF-7	breast:
5	chr4:87877638..87879941-chr4:87882578..87885517,2	K562	blood:
6	chr4:87876640..87879559-chr4:87894378..87897359,2	K562	blood:

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10489044	1.00[AFR][1000 genomes]
rs10516787	1.00[AFR][1000 genomes]
rs13110344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13116147	0.82[EUR][1000 genomes]
rs13136338	1.00[AFR][1000 genomes]
rs13136465	1.00[AFR][1000 genomes]
rs13140610	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17702203	1.00[AFR][1000 genomes]
rs34140562	1.00[AFR][1000 genomes]
rs34227282	1.00[AFR][1000 genomes]
rs34709431	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34745873	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35245331	1.00[AFR][1000 genomes]
rs35653846	1.00[AFR][1000 genomes]
rs35812445	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35849753	0.83[AFR][1000 genomes]
rs35886751	1.00[AFR][1000 genomes]
rs41525049	1.00[AFR][1000 genomes]
rs431836	1.00[AFR][1000 genomes]
rs62305658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62306466	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62306480	1.00[AFR][1000 genomes]
rs62306505	1.00[AFR][1000 genomes]
rs62306508	1.00[AFR][1000 genomes]
rs62306509	1.00[AFR][1000 genomes]
rs62306510	1.00[AFR][1000 genomes]
rs62306511	1.00[AFR][1000 genomes]
rs62306514	1.00[AFR][1000 genomes]
rs767314	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS 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	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87857600-87882000	Weak transcription	Spleen	Spleen
2	chr4:87857800-87880200	Weak transcription	HSMM	muscle
3	chr4:87858600-87881000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:87861400-87880800	Weak transcription	Aorta	Aorta
5	chr4:87861800-87880000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:87861800-87880600	Weak transcription	Fetal Kidney	kidney
7	chr4:87864400-87880600	Weak transcription	Gastric	stomach
8	chr4:87864400-87880800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:87868200-87880600	Weak transcription	Lung	lung
10	chr4:87868200-87881200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:87868400-87880000	Weak transcription	Thymus	Thymus
12	chr4:87868400-87880800	Weak transcription	Pancreas	Pancrea
13	chr4:87868400-87881400	Weak transcription	Colonic Mucosa	Colon
14	chr4:87868400-87891800	Weak transcription	Esophagus	oesophagus
15	chr4:87868600-87886800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:87868600-87898000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:87869000-87880800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr4:87869400-87881800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr4:87869600-87881200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr4:87869600-87882000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:87869600-87886200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr4:87869800-87880600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:87869800-87880800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr4:87869800-87880800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr4:87869800-87888000	Weak transcription	HUVEC	blood vessel
26	chr4:87869800-87894000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr4:87870200-87879600	Weak transcription	Stomach Mucosa	stomach
28	chr4:87870200-87880600	Weak transcription	Brain Substantia Nigra	brain
29	chr4:87870200-87880800	Weak transcription	Brain Hippocampus Middle	brain
30	chr4:87871600-87881800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr4:87872000-87880800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:87872000-87881800	Weak transcription	Ovary	ovary
33	chr4:87872200-87879600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr4:87872400-87880000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:87872400-87880800	Weak transcription	Left Ventricle	heart
36	chr4:87872400-87880800	Weak transcription	Right Ventricle	heart
37	chr4:87872400-87882000	Weak transcription	Primary T cells from cord blood	blood
38	chr4:87872600-87879600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr4:87872600-87880000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr4:87872600-87880000	Weak transcription	Fetal Intestine Small	intestine
41	chr4:87872600-87880200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr4:87872600-87880800	Weak transcription	Psoas Muscle	Psoas
43	chr4:87872600-87881200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr4:87872600-87882800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr4:87872600-87926200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr4:87872800-87891400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:87875000-87880000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:87875200-87882400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr4:87875600-87882000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr4:87876000-87879600	Weak transcription	Fetal Thymus	thymus

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