Variant report

Variant	rs60869579
Chromosome Location	chr11:57188264-57188265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:57188150-57188285	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:57187356-57190630	GM18505	blood:	n/a	n/a
3	POLR2A	chr11:57187822-57189103	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:57187228-57189742	U87	brain:	n/a	n/a
5	POLR2A	chr11:57187256-57188676	U87	brain:	n/a	n/a
6	POLR2A	chr11:57187438-57190887	K562	blood:	n/a	n/a
7	POLR2A	chr11:57186431-57189612	HL-60	blood:	n/a	n/a
8	POLR2A	chr11:57187225-57190736	GM12892	blood:	n/a	n/a
9	POLR2A	chr11:57187247-57190759	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:57187315-57190725	PBDE	blood:	n/a	n/a
11	POLR2A	chr11:57187159-57190789	HL-60	blood:	n/a	n/a
12	POLR2A	chr11:57187228-57190793	K562	blood:	n/a	n/a
13	POLR2A	chr11:57187776-57189673	K562	blood:	n/a	n/a
14	POLR2A	chr11:57186577-57190824	GM12891	blood:	n/a	n/a
15	POLR2A	chr11:57187315-57190703	K562	blood:	n/a	n/a
16	POLR2A	chr11:57187974-57190052	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr11:57187306-57190709	K562	blood:	n/a	n/a
18	POLR2A	chr11:57188178-57189368	GM12891	blood:	n/a	n/a
19	POLR2A	chr11:57187243-57190793	GM12892	blood:	n/a	n/a
20	POLR2A	chr11:57187239-57189475	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:57187997-57188621	U87	brain:	n/a	n/a
22	POLR2A	chr11:57187799-57189203	GM19193	blood:	n/a	n/a
23	POLR2A	chr11:57187301-57189555	GM19099	blood:	n/a	n/a
24	POLR2A	chr11:57187770-57188302	K562	blood:	n/a	n/a
25	POLR2A	chr11:57186493-57190815	K562	blood:	n/a	n/a
26	POLR2A	chr11:57187231-57189551	GM12892	blood:	n/a	n/a
27	POLR2A	chr11:57187286-57189565	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57101411..57103656-chr11:57186960..57191212,3	K562	blood:

No data

Variant related genes	Relation type
SLC43A3	TF binding region
ENSG00000149136	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3851116	0.93[AFR][1000 genomes]
rs57079864	0.94[AFR][1000 genomes]
rs6591424	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription 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 miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS 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	109 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57170200-57191600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:57172600-57189800	Strong transcription	Dnd41	blood
3	chr11:57173000-57192800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:57173200-57191400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:57173200-57191400	Strong transcription	Fetal Thymus	thymus
6	chr11:57174200-57189400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:57174200-57191800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:57174800-57189200	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:57174800-57192000	Weak transcription	HSMMtube	muscle
10	chr11:57175000-57188800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr11:57175000-57190000	Strong transcription	NHEK	skin
12	chr11:57175400-57190200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr11:57175600-57191200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:57175600-57191400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:57176000-57192800	Weak transcription	Stomach Mucosa	stomach
16	chr11:57176800-57192800	Weak transcription	Brain Anterior Caudate	brain
17	chr11:57177800-57189400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:57178000-57190400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:57178200-57190400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:57180400-57189000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:57180400-57190600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:57180400-57193400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:57180600-57189400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:57180600-57191200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:57180800-57189800	Strong transcription	Thymus	Thymus
26	chr11:57181000-57188800	Strong transcription	Left Ventricle	heart
27	chr11:57181000-57189400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:57181000-57191200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:57181000-57191800	Strong transcription	Fetal Stomach	stomach
30	chr11:57181200-57190000	Strong transcription	Fetal Lung	lung
31	chr11:57182600-57191600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:57182800-57193000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:57183000-57192800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:57184400-57191400	Weak transcription	Right Atrium	heart
35	chr11:57184600-57192400	Weak transcription	Aorta	Aorta
36	chr11:57185000-57191200	Strong transcription	Stomach Smooth Muscle	stomach
37	chr11:57185000-57191400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr11:57185000-57191600	Weak transcription	Placenta	Placenta
39	chr11:57185000-57192400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:57185200-57191400	Weak transcription	Right Ventricle	heart
41	chr11:57185200-57193600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr11:57185400-57188800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr11:57185400-57189000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr11:57185400-57189200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:57185400-57189800	Strong transcription	Fetal Muscle Leg	muscle
46	chr11:57185400-57191400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr11:57185400-57191600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:57185400-57191600	Weak transcription	Brain Hippocampus Middle	brain
49	chr11:57185400-57191600	Weak transcription	Brain Substantia Nigra	brain
50	chr11:57185400-57191600	Weak transcription	Fetal Brain Male	brain

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