Variant report

Variant	rs6485764
Chromosome Location	chr11:47655385-47655386
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47650534..47652404-chr11:47653064..47655999,2	MCF-7	breast:
2	chr11:47654513..47656961-chr11:47662854..47665133,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109919	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10690121	1.00[AMR][1000 genomes]
rs10769279	1.00[AMR][1000 genomes]
rs10769281	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10769283	1.00[AMR][1000 genomes]
rs10838735	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039309	1.00[AMR][1000 genomes]
rs11039312	1.00[AMR][1000 genomes]
rs2233354	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4256934	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4284367	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4303193	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4331047	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4418760	1.00[AMR][1000 genomes]
rs4434961	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4486587	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4623856	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4752859	1.00[AMR][1000 genomes]
rs6416137	1.00[AMR][1000 genomes]
rs6485760	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6485762	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7103092	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7105845	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7106293	1.00[AMR][1000 genomes]
rs7107473	1.00[AMR][1000 genomes]
rs7109012	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7118271	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7129821	1.00[AMR][1000 genomes]
rs7941173	0.88[AFR][1000 genomes]
rs7949024	0.84[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	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv469858	chr11:47647515-47837172	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47636600-47661400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:47637600-47657200	Strong transcription	Primary B cells from peripheral blood	blood
3	chr11:47637600-47660800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr11:47637600-47661200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:47637600-47663200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:47637800-47660400	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:47637800-47661000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr11:47637800-47661000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr11:47638000-47661400	Strong transcription	Fetal Thymus	thymus
10	chr11:47638000-47661800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:47638200-47661200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr11:47638200-47661200	Strong transcription	Stomach Smooth Muscle	stomach
13	chr11:47638200-47661600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:47638200-47661600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:47638400-47660400	Strong transcription	Dnd41	blood
16	chr11:47638400-47661200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:47638600-47657200	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr11:47638800-47661600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:47639000-47658000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr11:47639000-47661200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:47639000-47661400	Strong transcription	Fetal Muscle Leg	muscle
22	chr11:47639000-47662600	Weak transcription	Stomach Mucosa	stomach
23	chr11:47639200-47657600	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr11:47639400-47655400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:47639600-47661200	Strong transcription	Fetal Muscle Trunk	muscle
26	chr11:47639800-47657600	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:47640000-47661000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:47640200-47661200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:47640200-47661200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:47640200-47661200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:47640600-47661400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:47640800-47661400	Strong transcription	Fetal Intestine Small	intestine
33	chr11:47640800-47661400	Strong transcription	Fetal Stomach	stomach
34	chr11:47641800-47657600	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr11:47641800-47657600	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:47641800-47659200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr11:47641800-47661200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:47641800-47661600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:47642000-47661400	Strong transcription	Placenta	Placenta
40	chr11:47642000-47661800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:47643400-47661200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:47644000-47661600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:47645000-47657200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:47646800-47657800	Strong transcription	HUVEC	blood vessel
45	chr11:47646800-47662600	Weak transcription	Aorta	Aorta
46	chr11:47647200-47657200	Strong transcription	NHEK	skin
47	chr11:47648200-47662800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr11:47648200-47663200	Weak transcription	Gastric	stomach
49	chr11:47648400-47655600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:47648400-47656600	Weak transcription	Right Ventricle	heart

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