Variant report

Variant	rs1549454
Chromosome Location	chr8:131261986-131261987
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	chr8:131261093..131263625-chr8:131272270..131274011,4	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs13250469	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13278110	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs1417008	0.87[CHD][hapmap]
rs16904215	0.82[CHD][hapmap]
rs16904230	0.87[CHD][hapmap]
rs16904232	0.87[CHD][hapmap]
rs16904236	0.87[CHD][hapmap]
rs16904237	0.87[CHD][hapmap]
rs16904253	0.87[CHD][hapmap]
rs17196525	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17209339	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2045093	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.92[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs2303444	0.86[CHD][hapmap]
rs2305510	0.82[CHD][hapmap]
rs2670873	0.84[CHD][hapmap]
rs28407848	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28752214	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35713491	0.84[EUR][1000 genomes]
rs36065517	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3758028	0.87[CHD][hapmap]
rs4733773	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4733774	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.94[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6988276	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7387355	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes]
rs7843126	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7846662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1549454	FAM84B	cis	cerebellum	SCAN

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131225800-131274800	Weak transcription	Hela-S3	cervix
2	chr8:131237400-131268000	Weak transcription	Fetal Lung	lung
3	chr8:131242400-131268200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:131244000-131262400	Weak transcription	Fetal Brain Female	brain
5	chr8:131250000-131267000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:131250800-131266800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:131250800-131270600	Weak transcription	NH-A	brain
8	chr8:131250800-131289200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:131252000-131262800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr8:131252000-131263000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr8:131252200-131270400	Weak transcription	Aorta	Aorta
12	chr8:131254000-131262200	Enhancers	Primary T cells fromperipheralblood	blood
13	chr8:131254200-131262800	Enhancers	Primary B cells from peripheral blood	blood
14	chr8:131254600-131262200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:131254800-131262400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:131255400-131265200	Weak transcription	HSMM	muscle
17	chr8:131256000-131267000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:131256600-131268200	Weak transcription	HSMMtube	muscle
19	chr8:131257200-131262600	Weak transcription	Brain Anterior Caudate	brain
20	chr8:131257200-131264600	Weak transcription	Osteobl	bone
21	chr8:131257400-131262400	Weak transcription	Brain Substantia Nigra	brain
22	chr8:131257400-131262600	Weak transcription	Brain Hippocampus Middle	brain
23	chr8:131257400-131263800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr8:131257400-131270400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:131257400-131281600	Weak transcription	Gastric	stomach
26	chr8:131257600-131265400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:131258000-131262200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr8:131258000-131263200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:131258000-131275400	Weak transcription	Stomach Mucosa	stomach
30	chr8:131258400-131262200	Enhancers	Right Atrium	heart
31	chr8:131258400-131267200	Weak transcription	Adipose Nuclei	Adipose
32	chr8:131258600-131267000	Weak transcription	HepG2	liver
33	chr8:131259800-131262000	Flanking Active TSS	GM12878-XiMat	blood
34	chr8:131259800-131262200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:131260000-131262200	Enhancers	Left Ventricle	heart
36	chr8:131260000-131275200	Weak transcription	Fetal Intestine Small	intestine
37	chr8:131260600-131271600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:131260800-131262000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:131260800-131262000	Weak transcription	Ovary	ovary
40	chr8:131260800-131262200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:131260800-131262200	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr8:131260800-131265000	Weak transcription	A549	lung
43	chr8:131260800-131266000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr8:131260800-131270200	Weak transcription	Right Ventricle	heart
45	chr8:131260800-131272800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:131261000-131262200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:131261000-131262800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:131261000-131264800	Weak transcription	Small Intestine	intestine
49	chr8:131261000-131268000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr8:131261000-131268000	Weak transcription	Psoas Muscle	Psoas

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