Variant report

Variant	rs2051056
Chromosome Location	chr6:119299583-119299584
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr6:119299515-119299750	HepG2	liver:	n/a	chr6:119299632-119299647
2	MAFK	chr6:119299525-119299694	HepG2	liver:	n/a	chr6:119299632-119299647

Variant related genes	Relation type
FAM184A	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11967399	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11967889	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12191819	0.82[JPT][hapmap]
rs12197931	0.82[JPT][hapmap]
rs1407205	0.82[JPT][hapmap]
rs1762200	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2051057	0.96[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]
rs2295709	0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2357020	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2357030	0.88[CHB][hapmap];0.83[JPT][hapmap]
rs2782575	0.86[ASN][1000 genomes]
rs2797352	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs284914	0.82[JPT][hapmap]
rs284919	0.94[CHB][hapmap]
rs2884078	0.88[CHB][hapmap];0.86[CHD][hapmap]
rs3798595	0.82[JPT][hapmap]
rs4946383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4946384	0.82[JPT][hapmap]
rs57100274	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57285368	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6910327	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs6910850	0.82[CHB][hapmap]
rs768996	0.82[JPT][hapmap]
rs7742473	0.94[JPT][hapmap]
rs794260	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs794261	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs794262	1.00[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.93[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs794263	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs794264	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs794266	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs794605	0.87[ASN][1000 genomes]
rs794607	0.82[JPT][hapmap]
rs794614	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs811201	0.82[JPT][hapmap]
rs813812	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9374757	0.90[ASN][1000 genomes]
rs9374777	0.88[CHB][hapmap];0.86[CHD][hapmap]
rs9387609	0.90[ASN][1000 genomes]
rs9401113	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9401118	0.88[CHB][hapmap];0.86[CHD][hapmap]
rs9481870	0.82[JPT][hapmap]
rs9489526	0.94[JPT][hapmap]
rs9489535	0.82[JPT][hapmap]
rs9489536	0.82[JPT][hapmap]
rs9489543	0.86[JPT][hapmap]
rs9489544	0.82[JPT][hapmap]
rs962393	0.82[CHB][hapmap];0.94[JPT][hapmap]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2051056	FAM184A	cis	Liver	GTEx
rs2051056	C6orf204	cis	multi-tissue	Pritchard
rs2051056	SMPDL3A	cis	parietal	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119279800-119303600	Weak transcription	Adipose Nuclei	Adipose
2	chr6:119280000-119305200	Weak transcription	Primary T cells from cord blood	blood
3	chr6:119281600-119303200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:119283600-119302400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:119285200-119304400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr6:119285800-119340000	Weak transcription	Fetal Brain Male	brain
7	chr6:119286000-119300000	Weak transcription	Brain Anterior Caudate	brain
8	chr6:119286000-119302800	Weak transcription	Brain Angular Gyrus	brain
9	chr6:119287200-119305000	Weak transcription	HepG2	liver
10	chr6:119287200-119326600	Weak transcription	Fetal Brain Female	brain
11	chr6:119287400-119330000	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:119287600-119300200	Weak transcription	Placenta	Placenta
13	chr6:119288800-119315000	Weak transcription	Fetal Intestine Large	intestine
14	chr6:119289200-119304600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:119292400-119344000	Weak transcription	Brain Germinal Matrix	brain
16	chr6:119292800-119308600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:119293200-119345400	Weak transcription	Lung	lung
18	chr6:119293400-119306800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:119294200-119330800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:119295600-119307200	Weak transcription	Brain Hippocampus Middle	brain
21	chr6:119296200-119302200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:119296400-119302400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr6:119296800-119299600	Weak transcription	K562	blood
24	chr6:119296800-119314600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr6:119297400-119304400	Weak transcription	Pancreas	Pancrea
26	chr6:119298000-119300800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr6:119298000-119301400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:119298200-119301400	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr6:119298200-119301400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr6:119298800-119301200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr6:119299000-119299600	Strong transcription	Fetal Intestine Small	intestine
32	chr6:119299000-119301400	Weak transcription	Fetal Lung	lung
33	chr6:119299400-119299800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:119299400-119300600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:119299400-119300600	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr6:119299400-119300800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:119299400-119300800	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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