Variant report

Variant	rs390993
Chromosome Location	chr8:90773210-90773211
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90770120..90773332-chr8:90778069..90782721,6	K562	blood:
2	chr8:90766360..90773428-chr8:90991217..91000142,22	MCF-7	breast:
3	chr8:90731255..90734229-chr8:90770926..90773381,2	MCF-7	breast:
4	chr8:90735927..90738609-chr8:90772144..90774444,2	K562	blood:
5	chr8:90734885..90744209-chr8:90767977..90774247,14	MCF-7	breast:
6	chr8:90767236..90773457-chr8:90912212..90919638,16	MCF-7	breast:
7	chr8:90736815..90743993-chr8:90765696..90773918,18	MCF-7	breast:
8	chr8:90772791..90774637-chr8:90794290..90797972,3	MCF-7	breast:
9	chr8:90772003..90774182-chr8:90878976..90880598,2	K562	blood:
10	chr8:90766719..90773256-chr8:90991979..90999179,19	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164823	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000207359	Chromatin interaction
ENSG00000104320	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13312969	1.00[ASW][hapmap]
rs39510	1.00[LWK][hapmap];0.86[MKK][hapmap]
rs419181	1.00[ASW][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	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs390993	CALB1	cis	cerebellum	SCAN
rs390993	RIPK2	cis	parietal	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90770800-90773800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:90771000-90773600	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr8:90771000-90774200	Weak transcription	Gastric	stomach
4	chr8:90771000-90797000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:90771600-90774200	Enhancers	Fetal Heart	heart
6	chr8:90771600-90803800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:90771800-90773800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:90771800-90774200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr8:90771800-90774200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr8:90771800-90777400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:90771800-90784400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:90771800-90805000	Weak transcription	Esophagus	oesophagus
13	chr8:90772000-90773400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:90772000-90773800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:90772000-90776200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr8:90772000-90777400	Weak transcription	Primary T cells from cord blood	blood
17	chr8:90772000-90778000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:90772000-90778400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:90772000-90784600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:90772000-90785000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr8:90772000-90785400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:90772000-90796800	Weak transcription	Lung	lung
23	chr8:90772000-90797000	Weak transcription	Ovary	ovary
24	chr8:90772200-90773600	Weak transcription	Stomach Mucosa	stomach
25	chr8:90772200-90773800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:90772200-90773800	Enhancers	Brain Substantia Nigra	brain
27	chr8:90772200-90774000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr8:90772200-90774200	Enhancers	HepG2	liver
29	chr8:90772200-90774400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:90772200-90775800	Weak transcription	HSMM	muscle
31	chr8:90772200-90777600	Weak transcription	Placenta	Placenta
32	chr8:90772200-90778000	Weak transcription	Fetal Kidney	kidney
33	chr8:90772200-90778200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:90772200-90778200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:90772200-90778200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr8:90772200-90783600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr8:90772200-90783800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:90772200-90784600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr8:90772200-90785200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:90772200-90785600	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:90772200-90802000	Weak transcription	Colonic Mucosa	Colon
42	chr8:90772200-90802400	Weak transcription	Spleen	Spleen
43	chr8:90772200-90805200	Weak transcription	Fetal Brain Male	brain
44	chr8:90772200-90807200	Weak transcription	Pancreas	Pancrea
45	chr8:90772200-90809400	Weak transcription	Small Intestine	intestine
46	chr8:90772400-90773400	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr8:90772400-90773600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:90772400-90773600	Enhancers	HMEC	breast
49	chr8:90772400-90774400	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr8:90772400-90774400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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