Variant report

Variant	rs297571
Chromosome Location	chr8:96183017-96183018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:96182589..96184154-chr8:96193538..96196493,2	MCF-7	breast:
2	chr8:96102764..96105362-chr8:96180732..96183307,2	K562	blood:
3	chr8:96144822..96147641-chr8:96182540..96185630,3	K562	blood:

Variant related genes	Relation type
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11784806	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13257907	1.00[CHB][hapmap]
rs13261245	1.00[CHB][hapmap]
rs297565	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs297567	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs297569	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs297570	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825673	1.00[CHB][hapmap]
rs7830669	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs297571	C8orf38	cis	cerebellum	SCAN
rs297571	MATN2	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96172600-96186400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:96172600-96186800	Weak transcription	Gastric	stomach
3	chr8:96176400-96190200	Weak transcription	Fetal Thymus	thymus
4	chr8:96180200-96186400	Weak transcription	Brain Anterior Caudate	brain
5	chr8:96180200-96186400	Weak transcription	Brain Substantia Nigra	brain
6	chr8:96180800-96186200	Weak transcription	Brain Hippocampus Middle	brain
7	chr8:96180800-96186800	Weak transcription	Fetal Brain Female	brain
8	chr8:96181200-96183600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:96181400-96183600	Enhancers	Liver	Liver
10	chr8:96181600-96186600	Weak transcription	Fetal Kidney	kidney
11	chr8:96181800-96185800	Weak transcription	Fetal Brain Male	brain
12	chr8:96181800-96186600	Weak transcription	GM12878-XiMat	blood
13	chr8:96181800-96186800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr8:96182000-96186000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:96182000-96186000	Weak transcription	Brain Germinal Matrix	brain
16	chr8:96182000-96186600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:96182200-96184200	Weak transcription	K562	blood
18	chr8:96182200-96186000	Weak transcription	Fetal Intestine Small	intestine
19	chr8:96182200-96186400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:96182200-96186600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr8:96182400-96186200	Weak transcription	Primary B cells from cord blood	blood
22	chr8:96182400-96186200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:96182400-96186600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:96182400-96188400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:96182600-96184400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr8:96182600-96185800	Weak transcription	Fetal Intestine Large	intestine
27	chr8:96182600-96186800	Weak transcription	Pancreas	Pancrea
28	chr8:96183000-96186000	Weak transcription	HepG2	liver

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