Variant report

Variant	rs11727
Chromosome Location	chr7:4802442-4802443
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4802110..4804646-chr7:4807009..4808725,2	MCF-7	breast:
2	chr7:4799821..4803405-chr7:4812415..4816701,6	MCF-7	breast:
3	chr7:4792959..4795296-chr7:4800796..4803587,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242802	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10268723	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1053753	0.98[ASN][1000 genomes]
rs11763090	1.00[ASN][1000 genomes]
rs11763558	0.98[ASN][1000 genomes]
rs11978727	1.00[ASN][1000 genomes]
rs56101000	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57494433	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73674090	0.98[ASN][1000 genomes]
rs73674092	1.00[ASN][1000 genomes]
rs7777890	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv887377	chr7:4730535-4862259	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv887379	chr7:4749527-4828593	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv471293	chr7:4764861-4885221	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv887381	chr7:4769030-4880954	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv823994	chr7:4792385-4928328	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
12	nsv887382	chr7:4792762-4880954	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv8033	chr7:4802287-5086597	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 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	chr7:4785200-4814200	Weak transcription	Fetal Brain Male	brain
2	chr7:4785600-4814400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:4786400-4808400	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:4786600-4804400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:4786600-4809000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:4786800-4807400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:4787000-4807600	Strong transcription	Dnd41	blood
8	chr7:4787600-4812400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:4788200-4808200	Weak transcription	Fetal Heart	heart
10	chr7:4788200-4812400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:4788400-4808400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:4788400-4813800	Weak transcription	Right Atrium	heart
13	chr7:4789200-4804000	Strong transcription	Fetal Stomach	stomach
14	chr7:4789600-4814400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:4790400-4807200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr7:4791000-4804200	Strong transcription	Fetal Thymus	thymus
17	chr7:4791200-4808000	Strong transcription	Fetal Muscle Leg	muscle
18	chr7:4791800-4809000	Strong transcription	NHLF	lung
19	chr7:4792000-4808200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:4792400-4803600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:4792400-4807600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:4793200-4804000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:4793200-4808800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:4793400-4807400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:4793400-4807600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:4793600-4805800	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr7:4793600-4807600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr7:4793600-4807800	Strong transcription	Fetal Muscle Trunk	muscle
29	chr7:4793800-4803400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr7:4793800-4804200	Strong transcription	Right Ventricle	heart
31	chr7:4793800-4804800	Strong transcription	HepG2	liver
32	chr7:4793800-4807000	Strong transcription	Lung	lung
33	chr7:4793800-4807400	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr7:4793800-4809000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:4794000-4803600	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr7:4794000-4803800	Strong transcription	Colon Smooth Muscle	Colon
37	chr7:4794000-4804400	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr7:4794000-4804600	Strong transcription	Colonic Mucosa	Colon
39	chr7:4794000-4804600	Strong transcription	Gastric	stomach
40	chr7:4794000-4804600	Strong transcription	Ovary	ovary
41	chr7:4794000-4805200	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr7:4794000-4805400	Strong transcription	Primary B cells from peripheral blood	blood
43	chr7:4794000-4806000	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr7:4794000-4806800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:4794000-4806800	Strong transcription	Fetal Intestine Small	intestine
46	chr7:4794000-4807400	Strong transcription	Primary T cells from cord blood	blood
47	chr7:4794000-4807400	Strong transcription	Spleen	Spleen
48	chr7:4794000-4807600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:4794000-4807600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:4794000-4807600	Strong transcription	Brain Cingulate Gyrus	brain

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