Variant report

Variant	rs2131860
Chromosome Location	chr8:104328309-104328310
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104309684..104313119-chr8:104328267..104333017,4	MCF-7	breast:
2	chr8:104327755..104331504-chr8:104332133..104335041,3	K562	blood:
3	chr8:104326694..104328963-chr8:104333023..104334724,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164930	Chromatin interaction
ENSG00000247081	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12541167	0.83[MEX][hapmap]
rs12543038	0.82[MEX][hapmap]
rs1353213	0.83[MEX][hapmap]
rs1403293	0.84[AMR][1000 genomes]
rs1522707	0.83[MEX][hapmap]
rs1522713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1568641	0.90[AMR][1000 genomes]
rs2220825	0.83[MEX][hapmap]
rs2270525	0.89[CEU][hapmap];0.94[MEX][hapmap];0.95[AMR][1000 genomes]
rs3104029	0.92[AMR][1000 genomes]
rs3104031	0.84[AMR][1000 genomes]
rs3107648	0.89[CEU][hapmap];0.95[AMR][1000 genomes]
rs3107649	0.92[AMR][1000 genomes]
rs3116457	0.81[AMR][1000 genomes]
rs3116462	0.90[AMR][1000 genomes]
rs3116464	0.92[AMR][1000 genomes]
rs3116466	0.92[AMR][1000 genomes]
rs3116468	0.89[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes]
rs3133820	0.89[AMR][1000 genomes]
rs3133821	0.92[AMR][1000 genomes]
rs3133825	0.89[CEU][hapmap];0.92[AMR][1000 genomes]
rs3133827	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs4115670	0.96[ASN][1000 genomes]
rs827547	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS 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 target site	39 gene(s)	inside rSNPs	diseases
5	nsv1023181	chr8:104298542-104366365	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv527031	chr8:104320928-104333838	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1016395	chr8:104327541-104473005	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2131860	SLC25A32	cis	cerebellum	SCAN
rs2131860	ABRA	cis	parietal	SCAN

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104311600-104343600	Weak transcription	Spleen	Spleen
2	chr8:104311800-104331200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:104311800-104331400	Weak transcription	Liver	Liver
4	chr8:104311800-104331400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr8:104311800-104343600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:104312000-104337200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr8:104312000-104337200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:104312000-104343800	Weak transcription	Small Intestine	intestine
9	chr8:104312000-104348400	Weak transcription	Thymus	Thymus
10	chr8:104312000-104350200	Weak transcription	Esophagus	oesophagus
11	chr8:104312200-104337200	Weak transcription	Brain Anterior Caudate	brain
12	chr8:104312200-104337800	Weak transcription	Primary T cells from cord blood	blood
13	chr8:104312200-104339000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:104312400-104331400	Weak transcription	Fetal Stomach	stomach
15	chr8:104312400-104332600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:104312400-104345000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:104312400-104345000	Weak transcription	Right Ventricle	heart
18	chr8:104312400-104350000	Weak transcription	Lung	lung
19	chr8:104312600-104337200	Weak transcription	Brain Angular Gyrus	brain
20	chr8:104312600-104342400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr8:104312600-104344800	Weak transcription	Fetal Intestine Small	intestine
22	chr8:104312600-104350000	Weak transcription	Colon Smooth Muscle	Colon
23	chr8:104313200-104336800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:104317400-104354000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr8:104317600-104345800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:104317800-104331200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:104318000-104333800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:104318000-104345200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:104318200-104342600	Weak transcription	Brain Substantia Nigra	brain
30	chr8:104318600-104343400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr8:104319400-104334000	Weak transcription	Brain Hippocampus Middle	brain
32	chr8:104319400-104347200	Weak transcription	Hela-S3	cervix
33	chr8:104320400-104331000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:104320400-104343600	Weak transcription	Fetal Intestine Large	intestine
35	chr8:104320600-104337200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:104320800-104337000	Weak transcription	HSMMtube	muscle
37	chr8:104321000-104331400	Weak transcription	Ovary	ovary
38	chr8:104321200-104330800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr8:104321200-104330800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr8:104321200-104330800	Weak transcription	Fetal Thymus	thymus
41	chr8:104321200-104331400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr8:104321200-104331800	Weak transcription	Dnd41	blood
43	chr8:104321400-104330200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr8:104321400-104332800	Weak transcription	Osteobl	bone
45	chr8:104321400-104337200	Weak transcription	NHLF	lung
46	chr8:104321400-104342000	Weak transcription	Placenta	Placenta
47	chr8:104321400-104358800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr8:104321600-104331600	Weak transcription	Adipose Nuclei	Adipose
49	chr8:104321600-104333800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:104321600-104350200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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