Variant report

Variant	rs17883509
Chromosome Location	chr11:75110120-75110121
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr11:75110101-75111871	GM12878	blood:	n/a	chr11:75110964-75110972
2	CHD1	chr11:75109974-75112110	IMR90	lung:	n/a	n/a
3	POLR2A	chr11:75110119-75120367	PFSK-1	brain:	n/a	n/a
4	ELF1	chr11:75110077-75111131	MCF-7	breast:	n/a	chr11:75110574-75110586 chr11:75110539-75110552
5	SPI1	chr11:75110111-75110815	GM12878	blood:	n/a	n/a
6	MTA3	chr11:75110114-75111309	GM12878	blood:	n/a	n/a
7	MAX	chr11:75110093-75111839	HCT-116	colon:	n/a	n/a
8	REST	chr11:75110053-75111779	H1-neurons	neurons:	n/a	n/a
9	MAX	chr11:75110092-75111213	HCT-116	colon:	n/a	n/a
10	SIX5	chr11:75109975-75111344	A549	lung:	n/a	chr11:75110469-75110478 chr11:75110464-75110473 chr11:75110467-75110476 chr11:75110465-75110479
11	REST	chr11:75110120-75111146	A549	lung:	n/a	n/a
12	POLR2A	chr11:75109947-75112567	HepG2	liver:	n/a	n/a
13	GABPA	chr11:75110101-75111107	A549	lung:	n/a	n/a
14	POLR2A	chr11:75110085-75112055	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr11:75110057-75111950	MCF10A-Er-Src	breast:	n/a	n/a
16	BCL3	chr11:75110117-75110988	A549	lung:	n/a	chr11:75110796-75110804 chr11:75110540-75110549
17	SIN3AK20	chr11:75110091-75111922	MCF-7	breast:	n/a	n/a
18	HCFC1	chr11:75109980-75113143	Hela-S3	cervix:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75109252..75112429-chr11:75150436..75153898,3	MCF-7	breast:
2	chr11:73681017..73683540-chr11:75108485..75110869,2	MCF-7	breast:
3	chr11:75108861..75111951-chr11:75234433..75238212,4	K562	blood:
4	chr11:75109851..75112831-chr11:75160838..75163878,3	MCF-7	breast:
5	chr11:75109346..75112415-chr11:75273833..75276890,5	K562	blood:
6	chr11:75044252..75049039-chr11:75109874..75112804,4	K562	blood:
7	chr11:75109278..75112345-chr11:75158089..75162369,4	K562	blood:
8	chr11:75061780..75064300-chr11:75109349..75111939,3	MCF-7	breast:
9	chr11:75109502..75112547-chr11:75141371..75143241,3	K562	blood:
10	chr11:75109916..75112430-chr11:75138205..75142577,6	MCF-7	breast:
11	chr11:75109502..75112547-chr11:75141371..75144789,4	K562	blood:
12	chr11:75013957..75016437-chr11:75109454..75111364,2	MCF-7	breast:
13	chr11:75109262..75112458-chr11:75235870..75238742,4	MCF-7	breast:
14	chr11:75109363..75113212-chr11:75271581..75274783,5	MCF-7	breast:
15	chr11:75110054..75112415-chr11:75273833..75275586,2	K562	blood:
16	chr11:75108774..75112522-chr11:75157873..75162369,8	K562	blood:
17	chr11:75108861..75112568-chr11:75234338..75239079,8	K562	blood:
18	chr11:75017630..75020306-chr11:75109164..75110800,2	K562	blood:
19	chr11:74991337..74994595-chr11:75109481..75112048,3	MCF-7	breast:

No data

Variant related genes	Relation type
RPS3	TF binding region
SNORD15A	TF binding region
ENSG00000158555	Chromatin interaction
ENSG00000149257	Chromatin interaction
ENSG00000149243	Chromatin interaction
ENSG00000255847	Chromatin interaction
ENSG00000199090	Chromatin interaction
ENSG00000137486	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17133945	0.89[AFR][1000 genomes]
rs17883451	1.00[AFR][1000 genomes]
rs7119129	0.94[AFR][1000 genomes]
rs7122426	0.91[AFR][1000 genomes]
rs7123178	1.00[AFR][1000 genomes]
rs7934329	1.00[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	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv1799276	chr11:75104200-75135434	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75100200-75110200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr11:75100400-75110400	Weak transcription	HSMMtube	muscle
3	chr11:75100600-75110400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:75103200-75110200	Weak transcription	Hela-S3	cervix
5	chr11:75105600-75110200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:75106200-75110200	Weak transcription	Brain Anterior Caudate	brain
7	chr11:75106200-75110200	Weak transcription	K562	blood
8	chr11:75106200-75110400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:75106600-75110400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:75106800-75110200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:75106800-75110400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:75106800-75110400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:75106800-75110400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:75107000-75110400	Weak transcription	Brain Substantia Nigra	brain
15	chr11:75107000-75110600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:75107200-75110200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:75107200-75110400	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:75107400-75110200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:75107600-75110200	Weak transcription	Spleen	Spleen
20	chr11:75109600-75110200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr11:75109600-75110200	Enhancers	HUVEC	blood vessel
22	chr11:75109600-75110400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:75109800-75110200	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr11:75109800-75110200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:75109800-75110200	Enhancers	Dnd41	blood
26	chr11:75110000-75110200	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr11:75110000-75110200	Enhancers	HepG2	liver
28	chr11:75110000-75110400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:75110000-75110400	Enhancers	Fetal Muscle Trunk	muscle
30	chr11:75110000-75110400	Weak transcription	Monocytes-CD14+_RO01746	blood

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