Variant report

Variant	rs11990795
Chromosome Location	chr8:124232609-124232610
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr8:124232560-124233541	HCT-116	colon:	n/a	chr8:124233021-124233040
2	CTCF	chr8:124232287-124233442	SK-N-SH	brain:	n/a	chr8:124233018-124233039 chr8:124233023-124233041
3	RAD21	chr8:124232555-124233284	MCF-7	breast:	n/a	chr8:124233021-124233040
4	POLR2A	chr8:124232473-124233187	PFSK-1	brain:	n/a	n/a
5	RAD21	chr8:124232553-124233473	HCT-116	colon:	n/a	chr8:124233021-124233040
6	CTCF	chr8:124232560-124232710	HCT-116	colon:	n/a	n/a
7	CTCF	chr8:124232586-124233490	HCT-116	colon:	n/a	chr8:124233018-124233039 chr8:124233023-124233041
8	CTCF	chr8:124232063-124233437	A549	lung:	n/a	chr8:124233018-124233039 chr8:124233023-124233041
9	RAD21	chr8:124232558-124233468	SK-N-SH	brain:	n/a	chr8:124233021-124233040

No.	Distal block	Cell Line	Cell type
1	chr8:123685739..123686694-chr8:124232527..124233195,3	K562	blood:
2	chr8:124031162..124031779-chr8:124232603..124233215,2	MCF-7	breast:
3	chr8:124171396..124176501-chr8:124228974..124234727,7	MCF-7	breast:
4	chr8:124231790..124234684-chr8:124283747..124286547,2	MCF-7	breast:
5	chr8:124169803..124170803-chr8:124232413..124233556,3	MCF-7	breast:
6	chr8:124169671..124171262-chr8:124231448..124233023,2	MCF-7	breast:
7	chr8:124173844..124174533-chr8:124232603..124233348,2	MCF-7	breast:
8	chr8:124166703..124167515-chr8:124232586..124233500,2	MCF-7	breast:
9	chr8:124172234..124173328-chr8:124232518..124233542,12	MCF-7	breast:
10	chr8:124168721..124173901-chr8:124230598..124235089,6	MCF-7	breast:
11	chr8:124077769..124078480-chr8:124232524..124233054,2	MCF-7	breast:
12	chr8:124172180..124173617-chr8:124232329..124233727,43	MCF-7	breast:

Variant related genes	Relation type
MIR4663	TF binding region
ENSG00000165156	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11992140	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs11993945	1.00[MEX][hapmap]
rs16898165	0.80[AMR][1000 genomes]
rs16898199	1.00[MEX][hapmap]
rs2891717	0.81[MKK][hapmap]
rs55671742	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55905385	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs57116079	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs61094493	0.92[AFR][1000 genomes]
rs6989437	1.00[MEX][hapmap];0.83[MKK][hapmap]
rs6996427	1.00[MEX][hapmap];0.85[MKK][hapmap]
rs7017197	0.83[AMR][1000 genomes]
rs7838103	0.81[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers 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	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124193400-124241200	Weak transcription	Right Atrium	heart
2	chr8:124219200-124245800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:124220200-124252800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:124222000-124237000	Weak transcription	HSMMtube	muscle
5	chr8:124224000-124237600	Weak transcription	Ovary	ovary
6	chr8:124225200-124236800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:124225200-124237600	Weak transcription	NHLF	lung
8	chr8:124225200-124239200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:124225400-124236600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:124225400-124237800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:124225800-124238200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:124226200-124238200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:124226600-124237600	Weak transcription	Brain Angular Gyrus	brain
14	chr8:124226800-124243400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:124227000-124237000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:124227600-124236200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr8:124227800-124234400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr8:124227800-124238000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:124227800-124238200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr8:124227800-124244200	Weak transcription	Fetal Brain Male	brain
21	chr8:124228200-124237600	Weak transcription	Brain Germinal Matrix	brain
22	chr8:124228400-124241200	Weak transcription	Fetal Kidney	kidney
23	chr8:124228600-124235600	Weak transcription	HUVEC	blood vessel
24	chr8:124228800-124237400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr8:124228800-124241400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr8:124229000-124234600	Strong transcription	Fetal Muscle Trunk	muscle
27	chr8:124229000-124234800	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr8:124229000-124244400	Strong transcription	Fetal Muscle Leg	muscle
29	chr8:124229000-124252200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:124229200-124233400	Strong transcription	Fetal Thymus	thymus
31	chr8:124229200-124233400	Strong transcription	GM12878-XiMat	blood
32	chr8:124229200-124235200	Strong transcription	Placenta	Placenta
33	chr8:124229200-124251400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:124229400-124233400	Strong transcription	K562	blood
35	chr8:124229400-124233600	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr8:124229400-124235400	Strong transcription	Dnd41	blood
37	chr8:124229400-124251200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr8:124229400-124252000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:124229600-124239400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:124229800-124233600	Strong transcription	Primary T cells from cord blood	blood
41	chr8:124229800-124237400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:124229800-124241000	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr8:124230000-124233400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:124230000-124237600	Weak transcription	NHDF-Ad	bronchial
45	chr8:124230200-124236600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr8:124230200-124237600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr8:124230200-124237600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr8:124230200-124247800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr8:124230200-124251200	Weak transcription	Stomach Mucosa	stomach
50	chr8:124230400-124233400	Weak transcription	Fetal Intestine Small	intestine

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