Variant report

Variant	rs16919386
Chromosome Location	chr11:93530301-93530302
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr11:93529990-93530356	K562	blood:	n/a	n/a
2	EP300	chr11:93529736-93530319	K562	blood:	n/a	n/a
3	CUX1	chr11:93530138-93530316	K562	blood:	n/a	n/a
4	CEBPB	chr11:93530004-93530371	K562	blood:	n/a	chr11:93530194-93530205
5	GATA1	chr11:93529493-93530423	PBDE	blood:	n/a	n/a
6	CEBPB	chr11:93530032-93530356	IMR90	lung:	n/a	chr11:93530194-93530205
7	CEBPB	chr11:93530016-93530365	HepG2	liver:	n/a	chr11:93530194-93530205
8	CEBPB	chr11:93530033-93530353	K562	blood:	n/a	chr11:93530194-93530205
9	POLR2A	chr11:93529588-93530715	K562	blood:	n/a	n/a
10	POLR2A	chr11:93529569-93530317	GM12878	blood:	n/a	n/a
11	CEBPB	chr11:93530022-93530362	Hela-S3	cervix:	n/a	chr11:93530194-93530205
12	JUND	chr11:93529751-93530350	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:93472589..93476859-chr11:93528988..93534877,8	K562	blood:
2	chr11:93516606..93519025-chr11:93528430..93531862,4	MCF-7	breast:
3	chr11:93475019..93477218-chr11:93528354..93530806,2	K562	blood:
4	chr11:93529722..93532438-chr11:93533262..93535785,3	K562	blood:

Variant related genes	Relation type
ENSG00000238437	TF binding region
MED17	TF binding region
RN7SL195P	TF binding region
ENSG00000166012	Chromatin interaction
ENSG00000182919	Chromatin interaction
ENSG00000042429	Chromatin interaction
ENSG00000265292	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs16919376	1.00[EUR][1000 genomes]
rs16919379	1.00[EUR][1000 genomes]
rs16919383	1.00[EUR][1000 genomes]
rs16919384	1.00[EUR][1000 genomes]
rs16919387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16919390	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16919393	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16919410	1.00[EUR][1000 genomes]
rs16919459	1.00[EUR][1000 genomes]
rs2212995	1.00[EUR][1000 genomes]
rs2226872	1.00[EUR][1000 genomes]
rs34028557	1.00[EUR][1000 genomes]
rs34298528	1.00[EUR][1000 genomes]
rs34298809	1.00[EUR][1000 genomes]
rs34631197	1.00[EUR][1000 genomes]
rs35454774	1.00[EUR][1000 genomes]
rs35642511	1.00[EUR][1000 genomes]
rs35646601	1.00[EUR][1000 genomes]
rs4372406	1.00[EUR][1000 genomes]
rs56893874	1.00[EUR][1000 genomes]
rs57340156	1.00[EUR][1000 genomes]
rs61628694	1.00[EUR][1000 genomes]
rs7103189	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7108692	1.00[EUR][1000 genomes]
rs7109799	1.00[EUR][1000 genomes]
rs7112202	1.00[EUR][1000 genomes]
rs7112720	1.00[EUR][1000 genomes]
rs7112990	1.00[EUR][1000 genomes]
rs7119915	1.00[EUR][1000 genomes]
rs7120747	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7934848	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7943111	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93519200-93542800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:93520200-93549400	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:93520200-93551000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:93520400-93549200	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:93520400-93549400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:93520600-93540000	Weak transcription	Right Atrium	heart
7	chr11:93520600-93548200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:93520600-93551000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:93520800-93549000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr11:93520800-93549200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:93520800-93549200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr11:93520800-93549400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:93520800-93549400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:93520800-93549400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:93521000-93533000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:93521000-93533000	Strong transcription	Fetal Muscle Leg	muscle
17	chr11:93521000-93547800	Strong transcription	Hela-S3	cervix
18	chr11:93521000-93548600	Strong transcription	NH-A	brain
19	chr11:93521000-93549200	Strong transcription	Fetal Thymus	thymus
20	chr11:93521000-93549600	Strong transcription	Primary B cells from peripheral blood	blood
21	chr11:93521000-93549600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:93521000-93550800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:93521200-93534000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:93521200-93540400	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:93521200-93547800	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr11:93521200-93548800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:93521200-93549200	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr11:93521200-93549200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:93521200-93549200	Strong transcription	Fetal Intestine Large	intestine
30	chr11:93521200-93549200	Strong transcription	Placenta	Placenta
31	chr11:93521200-93549200	Strong transcription	HUVEC	blood vessel
32	chr11:93521200-93549400	Strong transcription	Primary B cells from cord blood	blood
33	chr11:93521200-93549800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr11:93521400-93530800	Strong transcription	NHDF-Ad	bronchial
35	chr11:93521400-93546000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:93521400-93547800	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr11:93521400-93549000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:93521400-93549400	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr11:93521400-93549400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:93521400-93549400	Strong transcription	Liver	Liver
41	chr11:93521400-93549400	Strong transcription	Duodenum Mucosa	Duodenum
42	chr11:93521400-93549600	Strong transcription	Adipose Nuclei	Adipose
43	chr11:93521400-93551200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:93521600-93533000	Strong transcription	Primary hematopoietic stem cells	blood
45	chr11:93521600-93536400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr11:93521600-93536400	Strong transcription	Fetal Muscle Trunk	muscle
47	chr11:93521600-93549400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:93521800-93533600	Strong transcription	Fetal Brain Female	brain
49	chr11:93521800-93538400	Strong transcription	HSMM	muscle
50	chr11:93521800-93548000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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