Variant report

Variant	rs3891724
Chromosome Location	chr11:66436103-66436104
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66432551-66436984	MCF-7	breast:	n/a	n/a
2	POLR2A	chr11:66436070-66436773	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:66436103-66436472	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:66436080-66436793	K562	blood:	n/a	n/a
5	POLR2A	chr11:66432973-66436712	GM12891	blood:	n/a	n/a
6	POLR2A	chr11:66436092-66436201	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr11:66436087-66436360	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr11:66436044-66436791	GM12891	blood:	n/a	n/a
9	POLR2A	chr11:66436072-66436817	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr11:66435841-66436654	HepG2	liver:	n/a	n/a
11	POLR2A	chr11:66436061-66436773	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:66435256-66436598	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr11:66435410-66436183	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr11:66436069-66436851	GM12892	blood:	n/a	n/a
15	POLR2A	chr11:66435680-66436915	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr11:66436098-66436545	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:66435183-66436854	HCT-116	colon:	n/a	n/a
18	POLR2A	chr11:66435972-66436842	K562	blood:	n/a	n/a
19	POLR2A	chr11:66432551-66437019	U87	brain:	n/a	n/a
20	POLR2A	chr11:66435726-66436935	GM12892	blood:	n/a	n/a
21	POLR2A	chr11:66435718-66436940	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr11:66436022-66436800	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr11:66435979-66436862	HL-60	blood:	n/a	n/a
24	POLR2A	chr11:66432453-66439184	PANC-1	pancreas:	n/a	n/a
25	POLR2A	chr11:66435933-66436774	HepG2	liver:	n/a	n/a
26	POLR2A	chr11:66436012-66436752	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr11:66436052-66436788	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr11:66435746-66436579	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr11:66432565-66436928	PANC-1	pancreas:	n/a	n/a
30	POLR2A	chr11:66436010-66436825	HL-60	blood:	n/a	n/a
31	POLR2A	chr11:66435470-66436769	HepG2	liver:	n/a	n/a
32	POLR2A	chr11:66435709-66436916	GM12892	blood:	n/a	n/a
33	POLR2A	chr11:66436066-66436394	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr11:66435773-66436803	GM12878	blood:	n/a	n/a
35	POLR2A	chr11:66432929-66437013	U87	brain:	n/a	n/a
36	POLR2A	chr11:66435966-66436856	K562	blood:	n/a	n/a
37	SPI1	chr11:66436060-66436551	HL-60	blood:	n/a	n/a
38	POLR2A	chr11:66436066-66436786	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr11:66432546-66436860	K562	blood:	n/a	n/a
40	POLR2A	chr11:66436056-66436894	GM12891	blood:	n/a	n/a
41	POLR2A	chr11:66432459-66436971	SK-N-MC	brain:	n/a	n/a
42	POLR2A	chr11:66435981-66436761	GM12891	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66434858..66442780-chr11:66443506..66446731,13	MCF-7	breast:
2	chr11:66404107..66407187-chr11:66434979..66436836,3	MCF-7	breast:

No data

Variant related genes	Relation type
RBM4B	TF binding region
ENSG00000173914	Chromatin interaction
ENSG00000173933	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11227604	1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap]
rs11600012	1.00[CHD][hapmap]
rs11820790	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs11820976	1.00[CHD][hapmap]
rs12290557	1.00[CEU][hapmap]
rs28471984	1.00[CHD][hapmap]
rs35235415	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs471334	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap]
rs7124532	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv518919	chr11:66409409-66468469	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 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	chr11:66411800-66436200	Strong transcription	Fetal Muscle Trunk	muscle
2	chr11:66411800-66436400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:66411800-66442800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:66412000-66438800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:66412800-66436800	Strong transcription	Fetal Intestine Small	intestine
6	chr11:66413000-66436600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:66413000-66440400	Strong transcription	Fetal Stomach	stomach
8	chr11:66413000-66442600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:66413400-66438400	Strong transcription	Dnd41	blood
10	chr11:66413600-66438400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:66414800-66442600	Weak transcription	Small Intestine	intestine
12	chr11:66415000-66438800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr11:66417800-66436200	Weak transcription	Esophagus	oesophagus
14	chr11:66420000-66438400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:66420600-66443800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:66420800-66436200	Weak transcription	Pancreas	Pancrea
17	chr11:66422200-66439400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:66422800-66438600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:66424000-66438800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:66424200-66436400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:66424200-66438400	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:66424200-66438600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:66424200-66439200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:66424400-66438800	Strong transcription	Fetal Intestine Large	intestine
25	chr11:66424600-66436800	Strong transcription	Fetal Lung	lung
26	chr11:66426000-66436200	Strong transcription	NH-A	brain
27	chr11:66426000-66439200	Strong transcription	Primary T cells from cord blood	blood
28	chr11:66426600-66437000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:66426800-66438800	Strong transcription	HSMM	muscle
30	chr11:66427200-66436800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:66427600-66443200	Weak transcription	Stomach Mucosa	stomach
32	chr11:66428000-66438800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr11:66428000-66438800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:66428400-66438600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr11:66428400-66438600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:66428400-66438600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr11:66428400-66438800	Strong transcription	Hela-S3	cervix
38	chr11:66428600-66436400	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr11:66428600-66438400	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:66429400-66438000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr11:66429600-66437000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:66430400-66436800	Strong transcription	Adipose Nuclei	Adipose
43	chr11:66430600-66438400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:66430800-66438800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:66431200-66436800	Strong transcription	Primary hematopoietic stem cells	blood
46	chr11:66431200-66437000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:66431400-66436800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:66431400-66437000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:66432000-66436200	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr11:66432000-66436600	Strong transcription	H1 Cell Line	embryonic stem cell

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