Variant report

Variant	rs10104541
Chromosome Location	chr8:8779418-8779419
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8771578..8774012-chr8:8776513..8780192,4	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10046647	0.88[ASN][1000 genomes]
rs10046695	0.88[ASN][1000 genomes]
rs10046734	0.88[ASN][1000 genomes]
rs10046767	0.88[ASN][1000 genomes]
rs10087078	1.00[CHB][hapmap]
rs10090356	0.88[ASN][1000 genomes]
rs10093912	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10096966	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10097483	0.85[ASN][1000 genomes]
rs10100551	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10103128	0.88[ASN][1000 genomes]
rs10109507	0.88[ASN][1000 genomes]
rs10109732	0.88[ASN][1000 genomes]
rs10112744	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11775257	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781521	0.85[ASN][1000 genomes]
rs11782335	0.88[ASN][1000 genomes]
rs12335134	0.88[ASN][1000 genomes]
rs17642782	0.88[ASN][1000 genomes]
rs17643143	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17699608	0.88[ASN][1000 genomes]
rs2060045	1.00[CHB][hapmap]
rs28700973	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs28742018	0.86[AFR][1000 genomes]
rs60052734	0.81[ASN][1000 genomes]
rs7012903	0.88[ASN][1000 genomes]
rs7838663	1.00[CHB][hapmap]
rs9329171	0.88[ASN][1000 genomes]
rs9329172	0.88[ASN][1000 genomes]
rs9329173	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer 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 miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv1017388	chr8:8759494-8826714	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1017238	chr8:8760138-8831662	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1017715	chr8:8766881-8785883	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	esv275541	chr8:8766881-8791144	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv1026913	chr8:8773659-8838256	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10104541	MFHAS1	cis	cerebellum	SCAN
rs10104541	DEFB136	cis	parietal	SCAN
rs10104541	SGK223	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8763200-8783200	Weak transcription	Pancreas	Pancrea
2	chr8:8775600-8780600	Weak transcription	HepG2	liver
3	chr8:8775800-8780400	Weak transcription	Fetal Intestine Large	intestine
4	chr8:8775800-8780400	Weak transcription	Fetal Intestine Small	intestine
5	chr8:8776400-8780200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:8776600-8780800	Weak transcription	Stomach Mucosa	stomach
7	chr8:8776600-8792800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:8777800-8780600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:8778000-8779600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:8778000-8787600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:8778200-8780400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:8778400-8779600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr8:8778400-8780600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:8778400-8780600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:8778400-8780800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:8778600-8779600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr8:8778600-8780000	Weak transcription	Primary T cells from cord blood	blood
18	chr8:8778600-8780000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr8:8778600-8780000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:8778600-8780800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr8:8779200-8779600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr8:8779200-8779600	Enhancers	Primary B cells from peripheral blood	blood
23	chr8:8779200-8780400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr8:8779200-8780400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr8:8779400-8779600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr8:8779400-8780000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr8:8779400-8780400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr8:8779400-8780600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:8779400-8780800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:8779400-8781000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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