Variant report

Variant	rs6984815
Chromosome Location	chr8:131156071-131156072
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	chr8:131153447..131156687-chr8:131158655..131161846,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1008819	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs13253189	0.84[LWK][hapmap];0.80[MEX][hapmap]
rs13269464	0.87[YRI][hapmap]
rs1340020	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1978551	0.95[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes]
rs2791346	0.84[CEU][hapmap];0.83[GIH][hapmap]
rs2791349	0.95[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.88[MKK][hapmap];0.92[TSI][hapmap]
rs2994298	0.84[CEU][hapmap]
rs4733568	0.87[YRI][hapmap]
rs6470800	0.87[YRI][hapmap]
rs7386417	0.81[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6984815	FAM84B	cis	parietal	SCAN
rs6984815	MFHAS1	trans	lymphoblastoid	seeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
2	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:131128800-131186800	Weak transcription	Fetal Brain Male	brain
4	chr8:131130400-131180200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:131138800-131164600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr8:131140000-131156400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr8:131140000-131169200	Weak transcription	Brain Angular Gyrus	brain
8	chr8:131141400-131164400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:131144000-131156400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:131146400-131158200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:131146600-131178800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:131146600-131206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:131147200-131163800	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:131147400-131194400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr8:131147600-131159800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr8:131147600-131162000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:131147600-131170400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:131147600-131199800	Weak transcription	Pancreas	Pancrea
19	chr8:131147800-131156200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:131148000-131183800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:131148000-131194400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:131148400-131169800	Weak transcription	K562	blood
23	chr8:131148600-131164800	Weak transcription	Brain Anterior Caudate	brain
24	chr8:131148600-131169800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:131148600-131170200	Weak transcription	Fetal Intestine Small	intestine
26	chr8:131149000-131162000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:131149000-131168000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr8:131149000-131170600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:131149000-131178400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:131149200-131156800	Weak transcription	Liver	Liver
31	chr8:131149200-131158600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:131149200-131158600	Weak transcription	Dnd41	blood
33	chr8:131149200-131162200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr8:131149200-131163600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:131149200-131163600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:131149200-131163800	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:131149200-131164000	Weak transcription	Brain Substantia Nigra	brain
38	chr8:131149200-131168600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:131149200-131172200	Weak transcription	HepG2	liver
40	chr8:131149200-131178600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:131149200-131184400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr8:131149400-131161800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:131149400-131163800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr8:131149400-131163800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr8:131149400-131169200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr8:131149400-131169600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr8:131149600-131157800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:131149600-131158000	Weak transcription	Fetal Lung	lung
49	chr8:131149600-131162200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr8:131149600-131169400	Weak transcription	Thymus	Thymus

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