Variant report

Variant	rs12743406
Chromosome Location	chr1:161795516-161795517
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161794776..161796466-chr1:161808863..161811372,2	K562	blood:
2	chr1:161778182..161779848-chr1:161793768..161796616,2	K562	blood:

Variant related genes	Relation type
ENSG00000118217	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12083229	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12725121	1.00[EUR][1000 genomes]
rs12750977	1.00[EUR][1000 genomes]
rs35137451	1.00[EUR][1000 genomes]
rs35895484	1.00[EUR][1000 genomes]
rs36024683	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12743406	FCRLA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161738600-161795600	Weak transcription	Gastric	stomach
2	chr1:161753400-161800600	Weak transcription	Spleen	Spleen
3	chr1:161757400-161797000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:161762800-161797600	Weak transcription	HMEC	breast
5	chr1:161763000-161797400	Weak transcription	NHLF	lung
6	chr1:161773400-161797200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:161773400-161854400	Weak transcription	Small Intestine	intestine
8	chr1:161780200-161797200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:161780400-161798800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr1:161780400-161824400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:161780600-161798800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:161780600-161808200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:161780600-161823400	Weak transcription	A549	lung
14	chr1:161780600-161836600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:161780800-161795600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:161780800-161797600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:161780800-161798200	Weak transcription	Psoas Muscle	Psoas
18	chr1:161780800-161812400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:161780800-161823000	Weak transcription	HSMMtube	muscle
20	chr1:161780800-161825800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:161780800-161834000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:161781000-161823000	Weak transcription	Fetal Kidney	kidney
23	chr1:161781200-161796600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:161781400-161801000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:161785400-161822400	Weak transcription	Fetal Intestine Small	intestine
26	chr1:161786000-161797000	Weak transcription	Osteobl	bone
27	chr1:161786800-161797000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:161786800-161797200	Weak transcription	Hela-S3	cervix
29	chr1:161787400-161804600	Weak transcription	NHDF-Ad	bronchial
30	chr1:161787600-161797000	Weak transcription	Fetal Heart	heart
31	chr1:161787600-161809800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:161787600-161821000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:161788800-161796400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:161789400-161795600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:161789600-161795600	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr1:161789600-161798800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:161789800-161798800	Strong transcription	Primary T cells from cord blood	blood
38	chr1:161790200-161816000	Weak transcription	NHEK	skin
39	chr1:161791400-161823000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr1:161791600-161797000	Weak transcription	NH-A	brain
41	chr1:161791600-161805200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:161791600-161812800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:161791600-161816200	Weak transcription	HepG2	liver
44	chr1:161791600-161823000	Weak transcription	Fetal Lung	lung
45	chr1:161791800-161797400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:161791800-161798000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:161791800-161808200	Weak transcription	Right Ventricle	heart
48	chr1:161791800-161819800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr1:161791800-161820800	Weak transcription	Brain Hippocampus Middle	brain
50	chr1:161791800-161822400	Weak transcription	Thymus	Thymus

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