Variant report

Variant	rs1913846
Chromosome Location	chr1:165695726-165695727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165680183..165682740-chr1:165693137..165696252,3	K562	blood:
2	chr1:165693813..165696621-chr1:165795723..165799900,4	K562	blood:
3	chr1:165687876..165689763-chr1:165694105..165696675,2	K562	blood:
4	chr1:165684207..165686367-chr1:165693698..165695940,2	K562	blood:

Variant related genes	Relation type
ENSG00000143183	Chromatin interaction
ENSG00000143179	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10800152	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs10918266	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10918276	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10918281	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs12028087	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12723198	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs14223	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2153263	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs2153264	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs2790057	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs2814470	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3186873	0.80[ASN][1000 genomes]
rs4656462	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs4657470	0.84[CEU][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6426937	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6426940	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6656194	0.81[CHB][hapmap]
rs6670705	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7411708	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7512095	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7540840	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription 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	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1913846	FCGR3A	cis	parietal	SCAN
rs1913846	ADCY10	cis	parietal	SCAN
rs1913846	ARHGAP30	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165685200-165696600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr1:165685200-165721600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:165685600-165705200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:165687600-165695800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:165687600-165696200	Weak transcription	NHLF	lung
6	chr1:165687600-165696800	Weak transcription	GM12878-XiMat	blood
7	chr1:165687600-165705000	Weak transcription	Thymus	Thymus
8	chr1:165687600-165706000	Weak transcription	HepG2	liver
9	chr1:165687600-165709800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:165687600-165709800	Weak transcription	HUVEC	blood vessel
11	chr1:165687600-165737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:165687800-165695800	Weak transcription	K562	blood
13	chr1:165687800-165696200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:165687800-165707000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:165687800-165709800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:165689200-165696400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:165689200-165696400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:165690200-165710800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:165691000-165710000	Weak transcription	Fetal Kidney	kidney
20	chr1:165692200-165696000	Weak transcription	HMEC	breast
21	chr1:165692200-165697000	Weak transcription	Lung	lung
22	chr1:165692600-165697200	Weak transcription	Fetal Intestine Small	intestine
23	chr1:165693200-165696000	Weak transcription	Fetal Brain Female	brain
24	chr1:165693200-165705600	Weak transcription	Ovary	ovary
25	chr1:165693400-165709600	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:165693800-165697600	Weak transcription	Stomach Mucosa	stomach
27	chr1:165693800-165701000	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr1:165693800-165706000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:165694000-165695800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr1:165694000-165706000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:165694000-165708600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:165694000-165709800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr1:165694000-165709800	Weak transcription	Brain Substantia Nigra	brain
34	chr1:165694000-165711800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:165694200-165696400	Weak transcription	Brain Germinal Matrix	brain
36	chr1:165694200-165696800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:165694200-165705000	Weak transcription	Left Ventricle	heart
38	chr1:165694200-165709800	Weak transcription	Colonic Mucosa	Colon
39	chr1:165694200-165709800	Weak transcription	Pancreas	Pancrea
40	chr1:165694200-165709800	Weak transcription	Spleen	Spleen
41	chr1:165694200-165710000	Weak transcription	NHEK	skin
42	chr1:165694200-165721600	Weak transcription	Aorta	Aorta
43	chr1:165694200-165721600	Weak transcription	Esophagus	oesophagus
44	chr1:165694400-165696000	Weak transcription	A549	lung
45	chr1:165694400-165696800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:165694400-165697400	Strong transcription	Stomach Smooth Muscle	stomach
47	chr1:165694400-165698000	Strong transcription	Placenta	Placenta
48	chr1:165694400-165699200	Strong transcription	Liver	Liver
49	chr1:165694400-165705800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:165694400-165721600	Strong transcription	Primary T helper cells fromperipheralblood	blood

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