Variant report

Variant	rs13103946
Chromosome Location	chr4:8428604-8428605
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	chr4:8416707..8419298-chr4:8428396..8430193,3	MCF-7	breast:
2	chr4:8428067..8433323-chr4:8440948..8445760,8	K562	blood:

Variant related genes	Relation type
ENSG00000155275	Chromatin interaction
ENSG00000087008	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10016221	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10017177	0.96[ASN][1000 genomes]
rs1006113	0.96[ASN][1000 genomes]
rs10938710	0.83[ASN][1000 genomes]
rs10938712	0.92[ASN][1000 genomes]
rs11721377	0.99[ASN][1000 genomes]
rs11724408	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11731308	0.91[ASN][1000 genomes]
rs11931965	0.96[ASN][1000 genomes]
rs11934603	0.97[ASN][1000 genomes]
rs11938364	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13107329	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13130336	0.95[ASN][1000 genomes]
rs13134272	0.97[ASN][1000 genomes]
rs13136987	0.95[ASN][1000 genomes]
rs13139522	0.94[ASN][1000 genomes]
rs13150818	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1568692	0.94[ASN][1000 genomes]
rs1568693	0.94[ASN][1000 genomes]
rs2242483	0.95[ASN][1000 genomes]
rs2293229	0.95[ASN][1000 genomes]
rs28637781	0.96[ASN][1000 genomes]
rs28805000	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34947973	0.94[ASN][1000 genomes]
rs35893558	0.94[ASN][1000 genomes]
rs3796740	0.96[ASN][1000 genomes]
rs4543095	0.96[ASN][1000 genomes]
rs6447868	0.92[ASN][1000 genomes]
rs73087705	0.97[ASN][1000 genomes]
rs7668735	0.96[ASN][1000 genomes]
rs7696306	0.96[ASN][1000 genomes]
rs9291391	0.96[ASN][1000 genomes]
rs9291392	0.96[ASN][1000 genomes]
rs950306	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv461220	chr4:8372944-8458394	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv593638	chr4:8372944-8458394	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv470014	chr4:8390646-8429817	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv964028	chr4:8418957-8430160	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8399600-8429400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:8404600-8429400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:8416800-8429000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:8416800-8429000	Weak transcription	Brain Substantia Nigra	brain
5	chr4:8416800-8429000	Weak transcription	Fetal Kidney	kidney
6	chr4:8416800-8429000	Weak transcription	HUVEC	blood vessel
7	chr4:8417000-8429000	Weak transcription	Small Intestine	intestine
8	chr4:8417600-8428800	Weak transcription	Dnd41	blood
9	chr4:8417800-8428800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr4:8417800-8428800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:8417800-8429000	Weak transcription	Primary B cells from cord blood	blood
12	chr4:8417800-8429000	Weak transcription	Colonic Mucosa	Colon
13	chr4:8417800-8429000	Weak transcription	HSMMtube	muscle
14	chr4:8417800-8429200	Weak transcription	Fetal Lung	lung
15	chr4:8418000-8428800	Weak transcription	Stomach Mucosa	stomach
16	chr4:8418000-8429000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:8418000-8429000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:8418000-8429000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr4:8418200-8428800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr4:8418200-8429000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:8418200-8429000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:8418400-8428800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr4:8418400-8429000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr4:8418400-8429000	Weak transcription	NHEK	skin
25	chr4:8418600-8428800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:8418600-8428800	Weak transcription	Brain Angular Gyrus	brain
27	chr4:8418600-8429000	Weak transcription	Primary T cells from cord blood	blood
28	chr4:8418600-8429000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr4:8418600-8429000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:8418600-8429000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:8418600-8429000	Weak transcription	Brain Germinal Matrix	brain
32	chr4:8418600-8429000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr4:8418800-8428800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr4:8418800-8429000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr4:8419000-8428800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:8419000-8428800	Weak transcription	Fetal Brain Female	brain
37	chr4:8419200-8429000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr4:8419200-8429200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr4:8419400-8429000	Weak transcription	Fetal Intestine Small	intestine
40	chr4:8419400-8429000	Weak transcription	Thymus	Thymus
41	chr4:8419600-8429000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:8421600-8429000	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr4:8421600-8429000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr4:8421600-8429000	Weak transcription	HepG2	liver
45	chr4:8421600-8429000	Weak transcription	HSMM	muscle
46	chr4:8421800-8428800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:8421800-8428800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:8421800-8428800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr4:8421800-8429000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:8421800-8429000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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