Variant report

Variant	rs1996
Chromosome Location	chr11:68382591-68382592
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	POLR2A	chr11:68382054-68382612	K562	blood:	n/a	n/a
2	POLR2A	chr11:68382172-68382916	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr11:68382315-68382749	K562	blood:	n/a	n/a
4	POLR2A	chr11:68382207-68386019	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:68382211-68382638	K562	blood:	n/a	n/a
6	POLR2A	chr11:68382354-68382689	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:68382095-68382714	K562	blood:	n/a	n/a
8	POLR2A	chr11:68382164-68385784	K562	blood:	n/a	n/a
9	POLR2A	chr11:68382572-68385409	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:68371783..68376102-chr11:68377874..68383133,6	K562	blood:

Variant related genes	Relation type
ENSG00000266854	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11228270	1.00[YRI][hapmap]
rs11228271	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11228296	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11228297	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11512724	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12363572	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2242340	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7123591	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73504493	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431317	chr11:68282676-68411867	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3478641	chr11:68282679-68411856	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv3478652	chr11:68282679-68411856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3425206	chr11:68282708-68411817	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv3511614	chr11:68282726-68411806	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv3511615	chr11:68282726-68411806	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	esv3348204	chr11:68282891-68411839	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv832195	chr11:68286383-68474611	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv430403	chr11:68297201-68448324	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv897864	chr11:68367007-68453429	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68299200-68384000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:68304000-68384400	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr11:68309400-68384800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:68317000-68384200	Strong transcription	Fetal Muscle Trunk	muscle
5	chr11:68317600-68383600	Strong transcription	Placenta	Placenta
6	chr11:68318000-68383800	Strong transcription	Fetal Thymus	thymus
7	chr11:68318000-68384000	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr11:68318200-68384200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:68318600-68384600	Strong transcription	Primary B cells from cord blood	blood
10	chr11:68319200-68384200	Strong transcription	Duodenum Mucosa	Duodenum
11	chr11:68319800-68384000	Strong transcription	Liver	Liver
12	chr11:68329200-68384400	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr11:68333800-68384000	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr11:68333800-68384400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr11:68336800-68383800	Strong transcription	Dnd41	blood
16	chr11:68337000-68384000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:68337200-68384000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:68337400-68383400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:68337400-68383800	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr11:68337600-68384600	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr11:68341800-68383400	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:68342200-68385800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr11:68351000-68383200	Strong transcription	Fetal Intestine Large	intestine
24	chr11:68351200-68383800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:68351600-68384200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:68351800-68382800	Strong transcription	Primary B cells from peripheral blood	blood
27	chr11:68352000-68383600	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:68352800-68384400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:68352800-68384600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:68354600-68383800	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:68356600-68383600	Strong transcription	A549	lung
32	chr11:68356600-68383800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr11:68356600-68384200	Strong transcription	Stomach Smooth Muscle	stomach
34	chr11:68357000-68384400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:68362200-68382800	Strong transcription	HMEC	breast
36	chr11:68362200-68384400	Strong transcription	Primary T cells from cord blood	blood
37	chr11:68362400-68385600	Weak transcription	Right Atrium	heart
38	chr11:68362800-68384200	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:68363000-68382600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr11:68363000-68383200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:68363000-68383400	Strong transcription	Brain Cingulate Gyrus	brain
42	chr11:68363000-68383800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:68363000-68384400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:68363000-68384400	Strong transcription	Adipose Nuclei	Adipose
45	chr11:68363000-68384600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:68363200-68382800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr11:68363200-68384000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:68363200-68384000	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:68363200-68384000	Strong transcription	GM12878-XiMat	blood
50	chr11:68363200-68384200	Strong transcription	ES-I3 Cell Line	embryonic stem cell

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