Variant report

Variant	rs6484547
Chromosome Location	chr11:8834400-8834401
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr11:8833929-8834554	HL-60	blood:	n/a	n/a
2	CTCF	chr11:8834300-8834450	HRPEpiC	eye:	n/a	n/a
3	SPI1	chr11:8834066-8834452	HL-60	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8830703..8833043-chr11:8833134..8835525,2	MCF-7	breast:
2	chr11:8702847..8705692-chr11:8833365..8835740,2	MCF-7	breast:
3	chr11:8707539..8711325-chr11:8831652..8835543,5	MCF-7	breast:
4	chr11:8831391..8833809-chr11:8833845..8836255,2	K562	blood:
5	chr11:8717868..8722426-chr11:8832973..8835335,4	K562	blood:

No data

Variant related genes	Relation type
ST5	TF binding region
ENSG00000166444	Chromatin interaction
ENSG00000166441	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10219216	0.90[YRI][hapmap]
rs10219217	0.90[YRI][hapmap]
rs10769964	0.86[YRI][hapmap]
rs3850931	0.89[YRI][hapmap]
rs3850935	0.84[AFR][1000 genomes]
rs3850936	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3862353	0.88[AFR][1000 genomes]
rs4929917	0.94[YRI][hapmap];0.83[AFR][1000 genomes]
rs4929939	0.90[YRI][hapmap]
rs7121160	0.90[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7950108	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv527920	chr11:8816695-8856822	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv527073	chr11:8829168-8848463	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8832200-8835000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:8832400-8834600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:8832400-8835000	Weak transcription	HUVEC	blood vessel
4	chr11:8832400-8836800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr11:8832600-8834600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr11:8832600-8835000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:8832600-8835200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:8832600-8840800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:8832800-8834400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:8832800-8835000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:8832800-8835400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:8832800-8837400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr11:8833000-8834400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr11:8833000-8834800	Enhancers	Adipose Nuclei	Adipose
15	chr11:8833000-8834800	Enhancers	Hela-S3	cervix
16	chr11:8833000-8835000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:8833000-8835000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:8833000-8835000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:8833000-8835400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr11:8833000-8835400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr11:8833000-8835400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:8833000-8835400	Weak transcription	Left Ventricle	heart
23	chr11:8833000-8835400	Weak transcription	Psoas Muscle	Psoas
24	chr11:8833000-8835400	Weak transcription	Right Atrium	heart
25	chr11:8833000-8835400	Weak transcription	Right Ventricle	heart
26	chr11:8833000-8835400	Weak transcription	Small Intestine	intestine
27	chr11:8833000-8835400	Weak transcription	Spleen	Spleen
28	chr11:8833000-8836200	Enhancers	Stomach Mucosa	stomach
29	chr11:8833000-8836400	Enhancers	Colon Smooth Muscle	Colon
30	chr11:8833000-8837200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:8833000-8837200	Enhancers	NHDF-Ad	bronchial
32	chr11:8833000-8837400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:8833000-8837600	Enhancers	NHLF	lung
34	chr11:8833000-8839200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:8833200-8834400	Weak transcription	Fetal Intestine Small	intestine
36	chr11:8833200-8834400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr11:8833200-8834400	Enhancers	HepG2	liver
38	chr11:8833200-8834800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:8833200-8834800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr11:8833200-8834800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr11:8833200-8834800	Weak transcription	Fetal Muscle Leg	muscle
42	chr11:8833200-8834800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr11:8833200-8835000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:8833200-8835000	Weak transcription	Fetal Thymus	thymus
45	chr11:8833200-8835000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr11:8833200-8835000	Weak transcription	HSMMtube	muscle
47	chr11:8833200-8835000	Weak transcription	NH-A	brain
48	chr11:8833200-8835200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:8833200-8835200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:8833200-8835200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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