Variant report

Variant	rs7930928
Chromosome Location	chr11:105957520-105957521
allele	A/T
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	chr11:105957487-105957682	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:105947111..105951134-chr11:105957312..105961780,4	MCF-7	breast:

Variant related genes	Relation type
AASDHPPT	TF binding region
ENSG00000149313	Chromatin interaction
ENSG00000182359	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10750741	1.00[ASN][1000 genomes]
rs17104715	1.00[CHB][hapmap]
rs17105297	1.00[ASN][1000 genomes]
rs1939797	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1939803	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1939804	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1939814	1.00[ASN][1000 genomes]
rs1939815	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1940762	1.00[ASN][1000 genomes]
rs1940764	1.00[ASN][1000 genomes]
rs1940768	1.00[ASN][1000 genomes]
rs1940769	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1940771	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1940773	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155342	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41516344	1.00[CHB][hapmap]
rs4456234	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4485075	1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754142	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6591151	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7122457	1.00[CHB][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7928790	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7934598	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937624	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7946174	0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7946700	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048381	chr11:105945117-106561574	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:105949000-105973400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:105949200-105962200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:105949200-105966000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:105949200-105967800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:105949200-105969800	Weak transcription	Lung	lung
6	chr11:105949200-105971600	Weak transcription	Esophagus	oesophagus
7	chr11:105949800-105962200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:105949800-105962200	Weak transcription	Thymus	Thymus
9	chr11:105950400-105958000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:105950400-105971200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:105950600-105957800	Weak transcription	Stomach Mucosa	stomach
12	chr11:105950600-105958000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:105950600-105969400	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:105951200-105957800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:105951200-105962200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:105952000-105969400	Weak transcription	Colonic Mucosa	Colon
17	chr11:105952400-105957600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:105952400-105957600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:105952400-105957600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr11:105952400-105958400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:105952400-105958400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:105953000-105961800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr11:105953200-105957800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:105953200-105960400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:105953400-105957600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr11:105953400-105962000	Weak transcription	Placenta	Placenta
27	chr11:105953400-105962200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr11:105953400-105962400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:105953400-105962400	Weak transcription	Ovary	ovary
30	chr11:105953400-105962400	Weak transcription	Right Ventricle	heart
31	chr11:105953400-105965600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr11:105953400-105970600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:105953600-105957600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:105953600-105958200	Weak transcription	Fetal Heart	heart
35	chr11:105953600-105969600	Weak transcription	Gastric	stomach
36	chr11:105954000-105958000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr11:105954000-105958200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr11:105954000-105958400	Weak transcription	Fetal Brain Male	brain
39	chr11:105954000-105959600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr11:105954000-105961600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:105954000-105962000	Weak transcription	HMEC	breast
42	chr11:105954000-105962400	Weak transcription	HSMMtube	muscle
43	chr11:105954000-105963000	Weak transcription	NHDF-Ad	bronchial
44	chr11:105954200-105959400	Weak transcription	NH-A	brain
45	chr11:105954200-105961800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:105954400-105961000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:105954400-105961600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:105954600-105958400	Weak transcription	HUVEC	blood vessel
49	chr11:105955000-105957600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:105955000-105958200	Weak transcription	A549	lung

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