Variant report

Variant	rs7832708
Chromosome Location	chr8:10190040-10190041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10182025..10184201-chr8:10189131..10192259,3	K562	blood:
2	chr8:9815054..9815608-chr8:10190020..10190697,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175806	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10283145	0.90[MEX][hapmap]
rs11779480	1.00[CHB][hapmap]
rs17151637	1.00[CHB][hapmap]
rs17765901	0.85[MEX][hapmap]
rs2975648	0.81[MEX][hapmap]
rs4433149	0.85[MEX][hapmap]
rs4841317	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55743011	1.00[ASN][1000 genomes]
rs56262913	1.00[ASN][1000 genomes]
rs6601427	0.81[CEU][hapmap];1.00[CHB][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6982308	0.92[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7837979	0.82[GIH][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	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs7832708	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs7832708	PRSS55	cis	cerebellum	SCAN
rs7832708	MFHAS1	cis	cerebellum	SCAN
rs7832708	FLJ10661	cis	cerebellum	SCAN
rs7832708	C8orf13	cis	multi-tissue	Pritchard
rs7832708	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs7832708	DEFB134	cis	cerebellum	SCAN
rs7832708	CTSB	cis	cerebellum	SCAN
rs7832708	TDH	cis	cerebellum	SCAN
rs7832708	CLDN23	cis	multi-tissue	Pritchard

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10176600-10191200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:10178600-10190400	Weak transcription	Primary B cells from cord blood	blood
3	chr8:10179400-10190400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:10179400-10190600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:10179400-10191200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:10179400-10191200	Weak transcription	Fetal Intestine Small	intestine
7	chr8:10179400-10191200	Weak transcription	Pancreas	Pancrea
8	chr8:10179400-10192000	Weak transcription	Aorta	Aorta
9	chr8:10179600-10190200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:10180200-10190200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr8:10182600-10190600	Weak transcription	Spleen	Spleen
12	chr8:10182600-10192000	Weak transcription	Right Ventricle	heart
13	chr8:10186000-10190800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:10186800-10192200	Enhancers	Fetal Brain Male	brain
15	chr8:10188000-10191200	Enhancers	Fetal Brain Female	brain
16	chr8:10188400-10190200	Enhancers	Brain Hippocampus Middle	brain
17	chr8:10188400-10190600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:10188600-10190200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr8:10188800-10190600	Enhancers	Brain Germinal Matrix	brain
20	chr8:10189000-10190200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr8:10189000-10190200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:10189000-10190200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:10189000-10191600	Enhancers	Brain Angular Gyrus	brain
24	chr8:10189200-10190200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:10189200-10190200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr8:10189200-10190400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:10189200-10190400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:10189400-10190200	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr8:10189600-10190200	Enhancers	GM12878-XiMat	blood
30	chr8:10189600-10190400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:10189600-10190400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr8:10189600-10190600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr8:10189600-10191200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr8:10189600-10191400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:10189600-10191600	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr8:10189800-10191200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr8:10189800-10191600	Enhancers	Brain Anterior Caudate	brain
38	chr8:10189800-10191600	Enhancers	Brain Cingulate Gyrus	brain
39	chr8:10189800-10192000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:10190000-10190200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:10190000-10190200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr8:10190000-10190200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:10190000-10190800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr8:10190000-10191000	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr8:10190000-10191200	Enhancers	Brain Substantia Nigra	brain
46	chr8:10190000-10191400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:10190000-10191400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:10190000-10191400	Enhancers	Fetal Thymus	thymus
49	chr8:10190000-10191600	Enhancers	H9 Cell Line	embryonic stem cell
50	chr8:10190000-10191600	Enhancers	HUES48 Cell Line	embryonic stem cell

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