Variant report

Variant	rs7119248
Chromosome Location	chr11:3816197-3816198
allele	A/C
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:7)
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	chr11:3816059-3816202	K562	blood:	n/a	n/a
2	POLR2A	chr11:3815689-3816247	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:3816051-3819517	IMR90	lung:	n/a	n/a
4	POLR2A	chr11:3815383-3816213	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:3816167-3816626	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr11:3816109-3819778	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:3815537..3818080-chr11:3829335..3832010,3	K562	blood:
2	chr11:3816139..3821205-chr11:3826361..3831544,11	MCF-7	breast:
3	chr11:3815253..3816914-chr11:3817016..3818903,2	MCF-7	breast:
4	chr11:3815959..3820545-chr11:3854514..3864703,12	K562	blood:
5	chr11:3792691..3794199-chr11:3815236..3817396,2	MCF-7	breast:
6	chr11:3810141..3811927-chr11:3815704..3818583,2	K562	blood:
7	chr11:3813727..3817050-chr11:3817081..3819482,4	K562	blood:

No data

Variant related genes	Relation type
PGAP2	TF binding region
ENSG00000148985	Chromatin interaction
ENSG00000177105	Chromatin interaction
ENSG00000110713	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10835097	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11029779	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs188044	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs190680	0.85[ASN][1000 genomes]
rs2599737	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2672219	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs276885	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs276889	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs276892	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs276895	0.87[ASN][1000 genomes]
rs276900	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs276903	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs276904	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs276905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs276908	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs276909	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2943415	0.81[AMR][1000 genomes]
rs2957866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2957872	0.82[ASN][1000 genomes]
rs3758660	0.81[JPT][hapmap]
rs598041	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs623056	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs640359	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs658731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs685537	0.85[ASN][1000 genomes]
rs7101445	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7927587	0.86[EUR][1000 genomes]
rs7941146	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1803195	chr11:3806490-3924156	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 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	chr11:3739400-3817600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:3780600-3817000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:3793800-3816800	Weak transcription	Fetal Heart	heart
4	chr11:3793800-3817000	Weak transcription	Fetal Brain Male	brain
5	chr11:3800400-3816400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:3800400-3816400	Weak transcription	Small Intestine	intestine
7	chr11:3800400-3817000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:3800400-3817600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:3800600-3816400	Weak transcription	Colonic Mucosa	Colon
10	chr11:3800600-3817000	Weak transcription	HSMMtube	muscle
11	chr11:3800600-3817200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:3808400-3816400	Strong transcription	Fetal Stomach	stomach
13	chr11:3808400-3816600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:3808800-3816600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:3808800-3816600	Weak transcription	NHLF	lung
16	chr11:3808800-3816800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:3808800-3817000	Weak transcription	NHDF-Ad	bronchial
18	chr11:3809000-3817200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:3810400-3816200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:3810800-3816800	Strong transcription	Fetal Intestine Small	intestine
21	chr11:3811000-3816200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:3811200-3816200	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr11:3811200-3816600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:3811200-3816800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:3811200-3816800	Strong transcription	Fetal Intestine Large	intestine
26	chr11:3811200-3817000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:3811400-3816200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:3811400-3816400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:3811800-3816400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:3812200-3816400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:3812800-3816200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:3812800-3816400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:3812800-3816400	Strong transcription	Fetal Lung	lung
34	chr11:3812800-3816600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
35	chr11:3813200-3816200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:3813200-3816600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:3813200-3816600	Strong transcription	Fetal Muscle Trunk	muscle
38	chr11:3813400-3816200	Strong transcription	HSMM	muscle
39	chr11:3813400-3816400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:3813400-3816600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr11:3813400-3817000	Genic enhancers	Primary T cells fromperipheralblood	blood
42	chr11:3813600-3816200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr11:3813600-3817000	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:3813800-3816400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr11:3814000-3816800	Weak transcription	Fetal Kidney	kidney
46	chr11:3814200-3816200	Strong transcription	Brain Germinal Matrix	brain
47	chr11:3814200-3816800	Genic enhancers	Left Ventricle	heart
48	chr11:3814600-3816600	Weak transcription	NHEK	skin
49	chr11:3814800-3816400	Weak transcription	Colon Smooth Muscle	Colon
50	chr11:3814800-3816600	Weak transcription	Muscle Satellite Cultured Cells	--

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