Variant report

Variant	rs3743121
Chromosome Location	chr15:35147345-35147346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr15:35147080-35147418	SH-SY5Y	brain:	n/a	n/a
2	USF2	chr15:35147252-35147352	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr15:35146497-35148038	K562	blood:	n/a	n/a
4	POLR2A	chr15:35147314-35147522	HepG2	liver:	n/a	n/a
5	EP300	chr15:35146915-35147415	Hela-S3	cervix:	n/a	chr15:35147331-35147345
6	STAT3	chr15:35146925-35148466	Hela-S3	cervix:	n/a	chr15:35147082-35147091 chr15:35147083-35147092 chr15:35147329-35147340
7	TCF7L2	chr15:35147032-35148395	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr15:35146310-35148460	Hela-S3	cervix:	n/a	chr15:35146591-35146604 chr15:35147493-35147504

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:35147320-35147370	GM06990	blood:	n/a
2	chr15:35147320-35147370	HCF	heart:	n/a
3	chr15:35147320-35147370	LNCaP	prostate:	n/a
4	chr15:35147320-35147370	GM12878	blood:	n/a
5	chr15:35147320-35147370	BJ	skin:	n/a
6	chr15:35147320-35147370	PrEC	prostate:	n/a
7	chr15:35147320-35147370	MCF10A-Er-Src	breast:	n/a
8	chr15:35147320-35147370	NHBE	bronchial:	n/a
9	chr15:35147320-35147370	ovcar-3	ovarian:	n/a
10	chr15:35147320-35147370	Caco-2	colon:	n/a
11	chr15:35147320-35147370	AG04449	skin:	fetal
12	chr15:35147320-35147370	GM19239	blood:	n/a
13	chr15:35147320-35147370	SK-N-SH_RA	brain:	n/a
14	chr15:35147320-35147370	A549	lung:	n/a
15	chr15:35147320-35147370	Hela-S3	cervix:	n/a
16	chr15:35147320-35147370	H1-hESC	embryonic stem cell:	embryo
17	chr15:35147320-35147370	NB4	blood:	n/a
18	chr15:35147320-35147370	HIPEpiC	eye:	n/a
19	chr15:35147320-35147370	GM12892	blood:	n/a
20	chr15:35147320-35147370	SK-N-MC	brain:	n/a
21	chr15:35147320-35147370	GM12891	blood:	n/a
22	chr15:35147320-35147370	HPAEpiC	pulmonary alveolar:	n/a
23	chr15:35147320-35147370	T-47D	breast:	n/a
24	chr15:35147320-35147370	HEK293	kidney:	embryo
25	chr15:35147320-35147370	AG04450	lung:	fetal
26	chr15:35147320-35147370	HUVEC	blood vessel:	n/a
27	chr15:35147320-35147370	NHDF-neo	bronchial:	n/a
28	chr15:35147320-35147370	HRCEpiC	kidney:	n/a
29	chr15:35147320-35147370	HepG2	liver:	n/a
30	chr15:35147320-35147370	Hepatocyte	liver:	n/a
31	chr15:35147320-35147370	HAEpiC	amniotic membrane:	n/a
32	chr15:35147320-35147370	AG09309	skin:	n/a
33	chr15:35147320-35147370	HCT-116	colon:	n/a
34	chr15:35147320-35147370	HL-60	blood:	n/a
35	chr15:35147320-35147370	HRPEpiC	eye:	n/a
36	chr15:35147320-35147370	PANC-1	pancreas:	n/a
37	chr15:35147320-35147370	Jurkat	blood:	n/a
38	chr15:35147320-35147370	CMK	blood:	n/a
39	chr15:35147320-35147370	HEEpiC	esophagus:	n/a
40	chr15:35147320-35147370	HRE	kidney:	n/a
41	chr15:35147320-35147370	U87	brain:	n/a
42	chr15:35147320-35147370	SKMC	muscle:	n/a
43	chr15:35147320-35147370	AG10803	skin:	n/a
44	chr15:35147320-35147370	RPTEC	kidney:	n/a
45	chr15:35147320-35147370	ProgFib	skin:	n/a
46	chr15:35147320-35147370	HNPCEpiC	eye:	n/a
47	chr15:35147320-35147370	HCPEpiC	choroid plexus:	n/a
48	chr15:35147320-35147370	MCF-7	breast:	n/a
49	chr15:35147320-35147370	NT2-D1	testis:	n/a
50	chr15:35147320-35147370	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:35141828..35144222-chr15:35145311..35148151,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259751	TF binding region
ENSG00000259751	CpG island
ENSG00000259751	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10152246	0.86[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs10152363	0.83[YRI][hapmap]
rs10519967	0.86[CHB][hapmap];1.00[CHD][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs11073076	0.90[CHB][hapmap]
rs11633307	0.88[ASN][1000 genomes]
rs11635485	0.88[CHB][hapmap]
rs11636350	0.85[CHB][hapmap]
rs11855784	0.90[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs11857217	0.86[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11858044	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12439825	0.86[CHB][hapmap];0.87[CHD][hapmap]
rs12441204	0.81[CHB][hapmap]
rs12442905	0.90[CHB][hapmap];0.87[CHD][hapmap]
rs12593379	0.88[ASN][1000 genomes]
rs12593818	0.86[CHB][hapmap];1.00[CHD][hapmap];0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs12595318	0.82[ASN][1000 genomes]
rs12898639	0.85[ASN][1000 genomes]
rs12899377	0.94[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs12901028	0.85[ASN][1000 genomes]
rs12901457	0.82[ASN][1000 genomes]
rs12901991	0.91[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs12902633	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12904279	0.82[ASN][1000 genomes]
rs12915493	0.86[CHB][hapmap];1.00[CHD][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs12917386	0.91[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs12917597	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1357180	1.00[CEU][hapmap]
rs1376784	0.86[CHB][hapmap];1.00[CHD][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs16959966	0.81[CHB][hapmap];0.92[CHD][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs2044920	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2060809	0.90[CHB][hapmap];0.92[CHD][hapmap]
rs2060810	0.80[CHB][hapmap];0.89[CHD][hapmap]
rs2060811	0.90[CHB][hapmap]
rs2060812	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs2123048	0.88[ASN][1000 genomes]
rs2290320	0.80[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs2305411	0.86[CHB][hapmap]
rs2339746	0.88[ASN][1000 genomes]
rs2862	1.00[CEU][hapmap];0.87[YRI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3743122	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs3816447	0.86[CHB][hapmap];1.00[CHD][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs3848167	0.91[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4513050	0.90[CHB][hapmap];0.92[CHD][hapmap]
rs4569214	0.91[CHB][hapmap];0.94[JPT][hapmap]
rs4614679	0.87[CHD][hapmap]
rs4923817	0.86[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs4923818	0.82[ASN][1000 genomes]
rs4923845	0.86[CHB][hapmap]
rs4923849	0.89[CHD][hapmap]
rs4924324	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4924325	0.91[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4924339	0.90[CHD][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs4924344	0.86[CHB][hapmap];1.00[CHD][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs4924355	0.84[ASN][1000 genomes]
rs4924357	0.86[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs4924369	0.86[CHB][hapmap];1.00[CHD][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs6495723	0.88[ASN][1000 genomes]
rs6495724	0.91[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs6495726	0.80[ASN][1000 genomes]
rs6495729	0.86[CHB][hapmap]
rs6495730	0.90[CHB][hapmap]
rs7164151	0.86[CHB][hapmap];0.89[CHD][hapmap]
rs7164169	0.90[CHB][hapmap];0.92[CHD][hapmap]
rs7164266	0.90[CHB][hapmap];0.92[CHD][hapmap]
rs7164977	0.91[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7165835	0.89[ASN][1000 genomes]
rs7167892	0.86[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs7170646	1.00[CEU][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7170737	0.84[ASN][1000 genomes]
rs7171808	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7171993	1.00[CEU][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7177962	0.91[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7179833	0.90[CHB][hapmap];0.92[CHD][hapmap];0.83[YRI][hapmap]
rs7182356	0.90[CHB][hapmap];0.92[CHD][hapmap]
rs7182492	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7497306	0.91[ASN][1000 genomes]
rs8025770	0.91[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs8029715	0.88[EUR][1000 genomes]
rs8031583	0.88[ASN][1000 genomes]
rs8031677	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8036690	0.88[ASN][1000 genomes]
rs8037610	0.90[CHB][hapmap]
rs8039347	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs8040542	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs8040551	0.86[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs8042488	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs959478	0.91[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs963425	0.86[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs9806487	0.86[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs9920918	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350109	chr15:34668106-35534229	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv522411	chr15:34953986-35462981	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv457106	chr15:35049787-35227613	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv569153	chr15:35049787-35227613	Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv2761865	chr15:35101678-35271639	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	16 gene(s)	inside rSNPs	diseases
6	nsv832967	chr15:35110102-35267906	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3743121	AQR	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:35129200-35147600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr15:35130200-35147800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:35130400-35147600	Weak transcription	NHLF	lung
4	chr15:35134000-35147400	Weak transcription	NHDF-Ad	bronchial
5	chr15:35134600-35147600	Weak transcription	HSMM	muscle
6	chr15:35134800-35147400	Weak transcription	Fetal Muscle Leg	muscle
7	chr15:35139600-35148000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:35140400-35221600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr15:35140600-35148000	Weak transcription	NHEK	skin
10	chr15:35140800-35147400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr15:35141000-35148000	Weak transcription	Fetal Brain Female	brain
12	chr15:35141600-35154800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:35141800-35153400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:35142000-35147600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr15:35142600-35149000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:35142600-35149000	Weak transcription	Fetal Intestine Small	intestine
17	chr15:35142600-35149400	Weak transcription	Pancreas	Pancrea
18	chr15:35142600-35153400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr15:35142600-35156400	Weak transcription	Lung	lung
20	chr15:35142600-35180200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:35142600-35185200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr15:35143000-35147600	Weak transcription	HMEC	breast
23	chr15:35143400-35147400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr15:35143600-35148000	Weak transcription	Placenta	Placenta
25	chr15:35143800-35147400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr15:35144000-35147800	Weak transcription	GM12878-XiMat	blood
27	chr15:35144800-35148600	Enhancers	Fetal Heart	heart
28	chr15:35145000-35155400	Strong transcription	Primary T cells from cord blood	blood
29	chr15:35145200-35149000	Weak transcription	Right Atrium	heart
30	chr15:35145200-35198200	Weak transcription	Colonic Mucosa	Colon
31	chr15:35145400-35147400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:35145600-35147400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:35145600-35147600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr15:35145600-35147600	Weak transcription	Fetal Brain Male	brain
35	chr15:35145600-35148200	Weak transcription	Fetal Kidney	kidney
36	chr15:35145600-35152000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr15:35145600-35161200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr15:35145600-35184600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr15:35145800-35147400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr15:35145800-35147400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr15:35145800-35147400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr15:35145800-35147400	Weak transcription	Brain Angular Gyrus	brain
43	chr15:35145800-35147600	Weak transcription	Osteobl	bone
44	chr15:35145800-35148000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr15:35145800-35148000	Weak transcription	Gastric	stomach
46	chr15:35145800-35148200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr15:35145800-35148200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr15:35145800-35148200	Weak transcription	Fetal Stomach	stomach
49	chr15:35145800-35148200	Weak transcription	Spleen	Spleen
50	chr15:35145800-35153000	Weak transcription	Left Ventricle	heart

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