Variant report

Variant	rs1228014
Chromosome Location	chr11:48004593-48004594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:48003107..48006285-chr11:48013442..48016525,3	MCF-7	breast:
2	chr11:48001622..48003248-chr11:48003667..48005492,2	MCF-7	breast:
3	chr11:48002531..48005255-chr11:48006333..48009338,3	K562	blood:

Variant related genes	Relation type
ENSG00000149177	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12275829	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1228005	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228006	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228007	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1228015	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2697813	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2930182	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2930190	1.00[AMR][1000 genomes]
rs7101958	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv897326	chr11:47891334-48035474	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer 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	10 gene(s)	inside rSNPs	diseases
9	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	10 gene(s)	inside rSNPs	diseases
10	nsv1053145	chr11:47967902-48086950	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv870381	chr11:47989434-48142648	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
12	esv3396029	chr11:47993857-48241494	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
13	nsv317	chr11:47995903-48007266	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv528641	chr11:48004369-48043053	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv897327	chr11:48004369-48911660	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 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	chr11:48001800-48004600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:48002800-48005400	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr11:48003200-48004800	Enhancers	Fetal Brain Male	brain
4	chr11:48003400-48005200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr11:48003600-48004600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr11:48003600-48005000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:48003600-48005400	Enhancers	HUVEC	blood vessel
8	chr11:48003800-48004600	Enhancers	Brain Substantia Nigra	brain
9	chr11:48003800-48004800	Enhancers	Brain Cingulate Gyrus	brain
10	chr11:48003800-48004800	Weak transcription	Small Intestine	intestine
11	chr11:48003800-48004800	Weak transcription	HSMMtube	muscle
12	chr11:48003800-48004800	Enhancers	K562	blood
13	chr11:48003800-48005400	Enhancers	Primary B cells from peripheral blood	blood
14	chr11:48003800-48005400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:48003800-48006000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:48003800-48006000	Enhancers	NHDF-Ad	bronchial
17	chr11:48003800-48006200	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr11:48003800-48007800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:48003800-48008400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:48003800-48009000	Weak transcription	Left Ventricle	heart
21	chr11:48003800-48009000	Weak transcription	Right Atrium	heart
22	chr11:48003800-48009000	Weak transcription	Right Ventricle	heart
23	chr11:48003800-48012800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:48003800-48012800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr11:48003800-48012800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:48003800-48012800	Weak transcription	Lung	lung
27	chr11:48004000-48004600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:48004000-48004600	Enhancers	Primary T cells from cord blood	blood
29	chr11:48004000-48004600	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr11:48004000-48004600	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr11:48004000-48004600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:48004000-48004600	Enhancers	Duodenum Mucosa	Duodenum
33	chr11:48004000-48004600	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr11:48004000-48004600	Enhancers	Stomach Mucosa	stomach
35	chr11:48004000-48004600	Enhancers	Hela-S3	cervix
36	chr11:48004000-48004800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:48004000-48004800	Weak transcription	Colonic Mucosa	Colon
38	chr11:48004000-48004800	Genic enhancers	Fetal Intestine Small	intestine
39	chr11:48004000-48004800	Enhancers	NH-A	brain
40	chr11:48004000-48004800	Enhancers	Osteobl	bone
41	chr11:48004000-48005000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr11:48004000-48005000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:48004000-48005000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:48004000-48005000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:48004000-48005000	Enhancers	Adipose Nuclei	Adipose
46	chr11:48004000-48005000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:48004000-48005000	Weak transcription	Esophagus	oesophagus
48	chr11:48004000-48005000	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr11:48004000-48005200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:48004000-48005200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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