Variant report

Variant	rs7833007
Chromosome Location	chr8:131108193-131108194
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131026799..131030209-chr8:131104544..131108805,4	MCF-7	breast:
2	chr8:131106687..131108642-chr8:131122618..131124748,3	K562	blood:
3	chr8:131099858..131101381-chr8:131107390..131110366,2	K562	blood:

Variant related genes	Relation type
ENSG00000153310	Chromatin interaction
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10091313	0.81[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs10113410	0.89[CEU][hapmap];0.94[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10956511	0.80[CHB][hapmap]
rs11774690	0.81[CHB][hapmap]
rs11774947	0.80[CHB][hapmap]
rs11775292	0.80[CHB][hapmap]
rs12546206	0.80[CHB][hapmap]
rs12677193	0.85[CHB][hapmap]
rs13269464	0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17212137	0.81[CHB][hapmap]
rs17282526	1.00[CHB][hapmap];0.80[JPT][hapmap];0.84[ASN][1000 genomes]
rs1978550	0.80[CHB][hapmap]
rs2045092	0.94[CHB][hapmap];0.80[JPT][hapmap];0.84[ASN][1000 genomes]
rs2123870	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.97[YRI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2305513	0.85[CHB][hapmap]
rs2554373	0.88[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2554374	0.85[CHB][hapmap]
rs2670884	0.89[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2894508	0.80[CHB][hapmap]
rs35256608	0.83[ASN][1000 genomes]
rs3935174	0.81[CHB][hapmap]
rs4733568	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4733572	0.80[CHB][hapmap]
rs4733764	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4733768	0.80[CHB][hapmap]
rs4733776	0.80[CHB][hapmap]
rs4733780	0.80[CHB][hapmap]
rs6470796	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6470797	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6470799	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6470800	0.81[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6470802	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6988261	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6991975	0.85[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs6992305	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6996422	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7014800	0.83[ASN][1000 genomes]
rs7015970	1.00[CHB][hapmap];0.81[JPT][hapmap];0.94[ASN][1000 genomes]
rs7386417	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7460645	1.00[CHB][hapmap];0.80[JPT][hapmap];0.84[ASN][1000 genomes]
rs7464885	0.80[CHB][hapmap]
rs7816255	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7826083	0.80[ASN][1000 genomes]
rs7832651	0.80[CHB][hapmap]
rs7834461	0.85[CHB][hapmap]
rs7837226	0.85[CHB][hapmap]
rs7837833	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs897050	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs966185	1.00[CHB][hapmap];0.80[JPT][hapmap];0.93[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	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS 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	13 gene(s)	inside rSNPs	diseases
4	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131062600-131110600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
3	chr8:131087800-131109600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:131091000-131120000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:131096600-131120000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:131098600-131109400	Weak transcription	Psoas Muscle	Psoas
7	chr8:131099800-131117400	Weak transcription	Fetal Heart	heart
8	chr8:131101800-131121400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr8:131102000-131110600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:131102000-131123000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr8:131102200-131109400	Weak transcription	Aorta	Aorta
12	chr8:131103000-131122400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:131103400-131119000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:131103600-131108200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:131103600-131118200	Weak transcription	GM12878-XiMat	blood
16	chr8:131103600-131121400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr8:131103600-131122400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:131103800-131109600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:131103800-131120000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr8:131103800-131122000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:131103800-131122800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:131104200-131108600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:131104200-131117600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:131104200-131121400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:131104400-131108600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr8:131104400-131108600	Weak transcription	Spleen	Spleen
27	chr8:131104400-131109000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:131104400-131109400	Weak transcription	Esophagus	oesophagus
29	chr8:131104400-131109400	Weak transcription	Gastric	stomach
30	chr8:131104400-131109400	Weak transcription	Lung	lung
31	chr8:131104400-131113000	Weak transcription	Primary B cells from cord blood	blood
32	chr8:131104400-131114000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:131104400-131117600	Weak transcription	Fetal Brain Female	brain
34	chr8:131104400-131118000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr8:131104400-131118000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr8:131104400-131118000	Weak transcription	Right Ventricle	heart
37	chr8:131104400-131118000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr8:131104400-131120000	Weak transcription	Dnd41	blood
39	chr8:131104400-131120400	Weak transcription	Colonic Mucosa	Colon
40	chr8:131104400-131122600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:131104400-131122600	Weak transcription	Pancreas	Pancrea
42	chr8:131104400-131123600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr8:131104600-131108200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr8:131104600-131109400	Weak transcription	Thymus	Thymus
45	chr8:131104600-131116600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:131104600-131118000	Weak transcription	Ovary	ovary
47	chr8:131104600-131120000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr8:131104600-131120200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr8:131104600-131120200	Weak transcription	Colon Smooth Muscle	Colon
50	chr8:131104600-131121600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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