Variant report

Variant	rs12731669
Chromosome Location	chr1:161410458-161410459
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161128203..161130042-chr1:161408720..161410734,2	K562	blood:
2	chr1:161391094..161394225-chr1:161406445..161410510,3	K562	blood:
3	chr1:161172685..161175216-chr1:161409075..161411689,2	K562	blood:
4	chr1:161398543..161400305-chr1:161409223..161410860,2	K562	blood:
5	chr1:161400311..161402101-chr1:161410173..161412002,2	K562	blood:
6	chr1:161354632..161358747-chr1:161408665..161411829,3	K562	blood:
7	chr1:161395263..161401587-chr1:161405777..161411756,13	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143258	Chromatin interaction
ENSG00000224985	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10494359	0.91[CEU][hapmap];1.00[AFR][1000 genomes]
rs10494360	0.90[CEU][hapmap];0.84[TSI][hapmap]
rs12722986	1.00[AFR][1000 genomes]
rs12746613	0.83[CEU][hapmap];0.82[TSI][hapmap];1.00[AFR][1000 genomes]
rs35200803	1.00[AFR][1000 genomes]
rs373579	0.81[CEU][hapmap]
rs61802846	1.00[AFR][1000 genomes]
rs6671753	0.80[CEU][hapmap]
rs72717016	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72717018	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs7515174	0.83[CEU][hapmap]
rs7529225	0.81[CEU][hapmap]
rs7529425	0.83[CEU][hapmap]
rs7539468	0.89[CEU][hapmap]
rs7552317	0.83[CEU][hapmap]
rs867624	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs9427059	0.98[EUR][1000 genomes]
rs9427065	1.00[AFR][1000 genomes]
rs9427372	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9427387	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs9427392	0.98[EUR][1000 genomes]
rs9427393	0.94[EUR][1000 genomes]
rs9427394	0.98[EUR][1000 genomes]
rs9427399	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv432998	chr1:161335902-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv872493	chr1:161339060-161413794	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
4	nsv433009	chr1:161343927-161639328	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv1005812	chr1:161343951-161548101	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
6	nsv535182	chr1:161343951-161548101	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	esv2756866	chr1:161344255-161681552	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	esv2758972	chr1:161344255-161681552	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
9	nsv433020	chr1:161355634-161673682	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
10	esv2754329	chr1:161355728-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
11	nsv433031	chr1:161355728-161673682	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
12	nsv433042	chr1:161372038-161673682	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
13	nsv433053	chr1:161389417-161673682	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	nsv3243	chr1:161391435-161476893	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv433075	chr1:161395555-161673682	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
16	nsv831725	chr1:161403030-161666732	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	esv2757757	chr1:161406313-161624427	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
18	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
19	nsv820819	chr1:161408548-161451156	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	esv21308	chr1:161409063-161442720	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	esv3451840	chr1:161409428-161443526	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	esv3344166	chr1:161409528-161443526	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	esv3359978	chr1:161409528-161443526	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	esv3424752	chr1:161409628-161443526	Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	nsv825165	chr1:161409633-161451156	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
26	esv3435547	chr1:161409828-161443526	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	esv3383739	chr1:161409928-161443526	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	esv1821964	chr1:161410458-161642332	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12731669	FCGR2B	cis	Whole Blood	GTEx
rs12731669	HSPA7	cis	Artery Tibial	GTEx
rs12731669	FCGR2C	cis	Muscle Skeletal	GTEx
rs12731669	HSPA7	cis	Muscle Skeletal	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161409000-161410600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr1:161409200-161410600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr1:161409400-161410600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:161409400-161410600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:161409400-161410600	Flanking Active TSS	HMEC	breast
6	chr1:161409400-161410600	Active TSS	HSMM	muscle
7	chr1:161409600-161410600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr1:161409600-161410600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
9	chr1:161409600-161410600	Active TSS	Muscle Satellite Cultured Cells	--
10	chr1:161409600-161410600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
11	chr1:161409600-161410600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:161409600-161410600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
13	chr1:161409600-161410600	Active TSS	HSMMtube	muscle
14	chr1:161409600-161410800	Active TSS	H9 Cell Line	embryonic stem cell
15	chr1:161409600-161410800	Bivalent/Poised TSS	Psoas Muscle	Psoas
16	chr1:161409800-161410600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:161409800-161410600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr1:161409800-161410600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:161409800-161410600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:161409800-161410600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:161409800-161410600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:161409800-161410600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr1:161409800-161410600	Active TSS	Brain Angular Gyrus	brain
24	chr1:161409800-161410600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
25	chr1:161409800-161410600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
26	chr1:161409800-161410600	Active TSS	Brain Substantia Nigra	brain
27	chr1:161409800-161410600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
28	chr1:161409800-161410600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
29	chr1:161409800-161410600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
30	chr1:161409800-161410600	Flanking Active TSS	Pancreas	Pancrea
31	chr1:161409800-161410600	Bivalent/Poised TSS	Thymus	Thymus
32	chr1:161409800-161410600	Active TSS	A549	lung
33	chr1:161409800-161410600	Active TSS	GM12878-XiMat	blood
34	chr1:161409800-161410600	Active TSS	NHEK	skin
35	chr1:161409800-161410600	Active TSS	NHLF	lung
36	chr1:161409800-161410800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:161409800-161410800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:161409800-161410800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:161409800-161410800	Bivalent/Poised TSS	HepG2	liver
40	chr1:161410000-161410600	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr1:161410000-161410600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:161410000-161410600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:161410000-161410600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
44	chr1:161410000-161410600	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr1:161410000-161410600	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:161410000-161410600	Bivalent/Poised TSS	Ovary	ovary
47	chr1:161410000-161410600	Flanking Active TSS	Right Ventricle	heart
48	chr1:161410000-161410600	Active TSS	K562	blood
49	chr1:161410000-161410600	Active TSS	NH-A	brain
50	chr1:161410000-161410600	Active TSS	NHDF-Ad	bronchial

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