Variant report

Variant	rs7114249
Chromosome Location	chr11:62506000-62506001
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:62505720-62506124	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62504535..62506343-chr11:62516715..62519641,2	K562	blood:
2	chr11:62504502..62506566-chr11:62646418..62648273,2	K562	blood:
3	chr11:62499024..62507318-chr11:62604678..62610455,13	MCF-7	breast:
4	chr11:62503362..62506102-chr11:62571092..62572818,2	MCF-7	breast:
5	chr11:62495253..62497354-chr11:62504710..62507257,3	MCF-7	breast:
6	chr11:62500518..62507069-chr11:62517079..62523179,7	MCF-7	breast:

No data

Variant related genes	Relation type
TTC9C	TF binding region
ENSG00000162231	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000185670	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000168003	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12291596	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17157390	1.00[MEX][hapmap]
rs17157391	1.00[MEX][hapmap]
rs2956992	1.00[MEX][hapmap]
rs4343028	1.00[MEX][hapmap]
rs528616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs537602	1.00[MEX][hapmap]
rs631714	1.00[MEX][hapmap]
rs6912	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7101685	1.00[MEX][hapmap]
rs7103034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7104235	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7107423	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7110307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7113951	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7115869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7126157	0.96[AFR][1000 genomes]
rs7945873	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
5	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 gene(s)	inside rSNPs	diseases
6	nsv348	chr11:62474450-62519712	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 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	chr11:62496800-62516400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:62496800-62521000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:62497000-62508200	Weak transcription	Aorta	Aorta
4	chr11:62497400-62520400	Weak transcription	Psoas Muscle	Psoas
5	chr11:62497600-62519400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:62497800-62509600	Strong transcription	Fetal Intestine Small	intestine
7	chr11:62497800-62519600	Weak transcription	Gastric	stomach
8	chr11:62498000-62509600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:62498000-62509600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:62498000-62509600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr11:62498600-62509600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:62498800-62509200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:62498800-62509600	Strong transcription	Fetal Stomach	stomach
14	chr11:62499000-62509600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:62499000-62520800	Weak transcription	Fetal Brain Male	brain
16	chr11:62499200-62509600	Strong transcription	Fetal Muscle Trunk	muscle
17	chr11:62499200-62520800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:62499400-62510200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:62500000-62509000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr11:62500200-62509000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:62500200-62509200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:62500200-62509400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:62500200-62509400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:62500200-62509800	Strong transcription	Fetal Muscle Leg	muscle
25	chr11:62500400-62507600	Strong transcription	Fetal Brain Female	brain
26	chr11:62500400-62508400	Strong transcription	Dnd41	blood
27	chr11:62500400-62508800	Strong transcription	Fetal Intestine Large	intestine
28	chr11:62500400-62509000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:62500400-62509000	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr11:62500400-62509200	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr11:62500400-62509400	Strong transcription	Liver	Liver
32	chr11:62500400-62509400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr11:62500400-62509600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:62500400-62509600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:62500400-62509800	Strong transcription	Fetal Thymus	thymus
36	chr11:62500600-62506200	Strong transcription	Primary B cells from cord blood	blood
37	chr11:62500600-62508400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr11:62500600-62508600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:62500600-62509200	Strong transcription	Duodenum Mucosa	Duodenum
40	chr11:62500600-62509600	Strong transcription	Osteobl	bone
41	chr11:62500600-62510600	Strong transcription	Thymus	Thymus
42	chr11:62500800-62508200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:62500800-62508400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr11:62500800-62508400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:62500800-62509200	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:62500800-62509200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:62500800-62509200	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:62500800-62509600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:62500800-62509800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr11:62500800-62517600	Weak transcription	Stomach Mucosa	stomach

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