Variant report

Variant	rs12096414
Chromosome Location	chr1:211877481-211877482
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	chr1:211877072..211879946-chr1:211891385..211892885,2	K562	blood:
2	chr1:211872225..211875741-chr1:211876150..211878812,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1067244	0.81[JPT][hapmap]
rs11119790	1.00[JPT][hapmap]
rs11119795	0.98[ASN][1000 genomes]
rs11119796	0.88[ASN][1000 genomes]
rs12074029	1.00[JPT][hapmap]
rs12090550	0.98[ASN][1000 genomes]
rs17017952	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17017957	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2289725	1.00[JPT][hapmap]
rs3767376	1.00[JPT][hapmap]
rs59220491	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60075032	0.84[ASN][1000 genomes]
rs697003	0.81[JPT][hapmap]
rs701929	0.81[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754845	chr1:211846605-211878605	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12096414	FAM65B	trans	lymphoblastoid	seeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211872200-211878800	Weak transcription	Right Atrium	heart
2	chr1:211872600-211878000	Weak transcription	HMEC	breast
3	chr1:211872800-211884000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:211873000-211877600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:211875600-211878200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:211875600-211878800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:211876000-211877600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:211876000-211877800	Weak transcription	NHEK	skin
9	chr1:211876000-211880000	Enhancers	Fetal Muscle Trunk	muscle
10	chr1:211876400-211879400	Enhancers	Brain Substantia Nigra	brain
11	chr1:211876600-211878400	Enhancers	Brain Angular Gyrus	brain
12	chr1:211876600-211879000	Weak transcription	Placenta	Placenta
13	chr1:211876800-211879400	Enhancers	Brain Anterior Caudate	brain
14	chr1:211876800-211880400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:211877000-211877600	Flanking Active TSS	Brain Cingulate Gyrus	brain
16	chr1:211877000-211877800	Bivalent Enhancer	HepG2	liver
17	chr1:211877000-211878000	Enhancers	Fetal Thymus	thymus
18	chr1:211877000-211878000	Enhancers	Pancreas	Pancrea
19	chr1:211877000-211878200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:211877000-211880000	Enhancers	Fetal Muscle Leg	muscle
21	chr1:211877200-211877600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:211877200-211877600	Enhancers	Brain Hippocampus Middle	brain
23	chr1:211877200-211878000	Enhancers	HSMMtube	muscle
24	chr1:211877200-211878400	Enhancers	Spleen	Spleen
25	chr1:211877400-211877600	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr1:211877400-211877800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr1:211877400-211878000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr1:211877400-211878000	Enhancers	HUES6 Cell Line	embryonic stem cell

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