Variant report

Variant	rs4315495
Chromosome Location	chr2:11892190-11892191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11882616..11883484-chr2:11891634..11892366,2	K562	blood:
2	chr2:11798417..11800277-chr2:11891878..11893871,2	K562	blood:
3	chr2:11892034..11894418-chr2:11895630..11897983,2	K562	blood:
4	chr2:11890007..11892295-chr2:11917973..11920590,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1006538	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10169802	0.99[ASN][1000 genomes]
rs10191952	0.81[CHB][hapmap]
rs10191977	0.81[CHB][hapmap]
rs10192566	0.99[ASN][1000 genomes]
rs10205312	0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10205400	0.93[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs10207506	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208679	1.00[ASN][1000 genomes]
rs10209969	0.92[ASN][1000 genomes]
rs11676086	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11693809	0.99[ASN][1000 genomes]
rs11897144	0.90[ASN][1000 genomes]
rs13407101	0.94[ASN][1000 genomes]
rs13409154	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412852	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1469952	0.84[ASN][1000 genomes]
rs17603420	0.83[JPT][hapmap]
rs2278513	0.81[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs2358041	0.90[ASN][1000 genomes]
rs2358042	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2358126	0.89[CHD][hapmap];0.83[JPT][hapmap]
rs4076055	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4129757	0.82[JPT][hapmap]
rs4669778	0.81[CHB][hapmap];0.89[CHD][hapmap];0.83[ASN][1000 genomes]
rs62113306	0.96[ASN][1000 genomes]
rs6717910	0.85[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs6731096	0.96[ASN][1000 genomes]
rs72773994	0.92[ASN][1000 genomes]
rs7595221	0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs873358	1.00[ASN][1000 genomes]
rs893342	0.91[ASN][1000 genomes]
rs893349	0.81[CHB][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv580973	chr2:11864946-11898931	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv580974	chr2:11867841-11898931	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4315495	FAM84A	cis	cerebellum	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11887800-11894000	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:11888400-11893000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:11888400-11893200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:11888400-11893600	Weak transcription	HSMM	muscle
5	chr2:11888400-11895000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:11888400-11916400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:11888600-11893000	Weak transcription	Fetal Lung	lung
8	chr2:11888600-11893600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:11888600-11893600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:11888600-11894000	Enhancers	Brain Anterior Caudate	brain
11	chr2:11889000-11893200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:11889200-11893000	Weak transcription	A549	lung
13	chr2:11889200-11893600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr2:11889200-11894200	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:11889400-11893600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:11889400-11894400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:11889600-11892800	Weak transcription	Colonic Mucosa	Colon
18	chr2:11889600-11893000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:11889600-11893000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:11889600-11893200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr2:11889600-11893600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:11889600-11893800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:11889800-11892800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr2:11889800-11893000	Weak transcription	Gastric	stomach
25	chr2:11889800-11893600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr2:11890000-11892200	Weak transcription	Liver	Liver
27	chr2:11890000-11893000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr2:11890000-11893400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr2:11890000-11894000	Enhancers	Primary hematopoietic stem cells	blood
30	chr2:11890200-11892800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:11890400-11892200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:11890400-11892800	Weak transcription	Lung	lung
33	chr2:11890400-11893000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:11890400-11893000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr2:11890400-11893000	Weak transcription	Spleen	Spleen
36	chr2:11890400-11893400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:11890400-11893600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:11890400-11893600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:11890400-11893600	Weak transcription	Right Atrium	heart
40	chr2:11890400-11906400	Weak transcription	Fetal Brain Male	brain
41	chr2:11890600-11893000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:11890600-11893000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr2:11890600-11893000	Weak transcription	Adipose Nuclei	Adipose
44	chr2:11890600-11893600	Weak transcription	Fetal Brain Female	brain
45	chr2:11890600-11898600	Weak transcription	HepG2	liver
46	chr2:11890600-11905800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr2:11890800-11893000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:11890800-11895600	Enhancers	Psoas Muscle	Psoas
49	chr2:11891000-11893000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:11891000-11893000	Weak transcription	NHLF	lung

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