Variant report

Variant	rs7161425
Chromosome Location	chr14:37665990-37665991
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr14:37665781-37666115	K562	blood:	n/a	n/a
2	POLR2A	chr14:37665854-37667495	K562	blood:	n/a	n/a
3	YY1	chr14:37665818-37666155	K562	blood:	n/a	n/a
4	MAX	chr14:37665820-37666125	K562	blood:	n/a	n/a
5	MYC	chr14:37665742-37667804	K562	blood:	n/a	chr14:37667144-37667153 chr14:37667449-37667458
6	TBP	chr14:37665743-37666090	K562	blood:	n/a	n/a
7	MYC	chr14:37665753-37667911	K562	blood:	n/a	chr14:37667144-37667153 chr14:37667449-37667458
8	MAZ	chr14:37665568-37667899	K562	blood:	n/a	chr14:37667144-37667153 chr14:37667449-37667458
9	GTF3C2	chr14:37665828-37666246	K562	blood:	n/a	n/a
10	UBTF	chr14:37665849-37666043	K562	blood:	n/a	n/a
11	POLR2A	chr14:37665850-37667556	K562	blood:	n/a	n/a
12	POLR2A	chr14:37665688-37666217	K562	blood:	n/a	n/a
13	POLR2A	chr14:37665799-37667468	K562	blood:	n/a	n/a
14	POLR2A	chr14:37665886-37666158	MCF-7	breast:	n/a	n/a
15	TAF1	chr14:37665813-37666185	K562	blood:	n/a	n/a
16	ARID3A	chr14:37665962-37666204	K562	blood:	n/a	n/a
17	ZNF384	chr14:37665981-37667877	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:37652408..37654436-chr14:37665348..37666994,2	MCF-7	breast:
2	chr14:37639617..37644848-chr14:37662875..37669924,15	K562	blood:
3	chr14:37639061..37645694-chr14:37661777..37669317,18	MCF-7	breast:
4	chr14:37664939..37667912-chr14:38062947..38065316,3	MCF-7	breast:
5	chr14:37638241..37643981-chr14:37665773..37670423,8	MCF-7	breast:
6	chr14:37662314..37664941-chr14:37664960..37666969,2	K562	blood:
7	chr14:37639697..37645467-chr14:37664720..37672395,14	K562	blood:

Variant related genes	Relation type
MIPOL1	TF binding region
ENSG00000129514	Chromatin interaction
ENSG00000183032	Chromatin interaction
ENSG00000139865	Chromatin interaction
ENSG00000258708	Chromatin interaction

Extended variants
information (count: 135 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10132070	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10134502	0.92[CEU][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10135285	1.00[CEU][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10136217	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10136464	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10137231	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10139240	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10139649	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10139938	0.86[CEU][hapmap]
rs10140175	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10141058	0.91[CEU][hapmap];0.84[YRI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10145536	0.86[CEU][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10146056	0.86[CEU][hapmap]
rs10148078	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10149217	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10150704	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10150919	0.86[CEU][hapmap]
rs10151106	0.86[CEU][hapmap]
rs10220291	0.88[CEU][hapmap]
rs1080374	0.80[EUR][1000 genomes]
rs11156934	0.86[CEU][hapmap]
rs11156943	0.86[CEU][hapmap]
rs1117024	0.88[EUR][1000 genomes]
rs1123541	0.88[CEU][hapmap]
rs11620965	0.91[CEU][hapmap]
rs11850049	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11850688	0.92[EUR][1000 genomes]
rs12879089	0.84[CEU][hapmap]
rs12882311	0.85[EUR][1000 genomes]
rs12883655	0.80[EUR][1000 genomes]
rs12883794	0.80[EUR][1000 genomes]
rs12886692	0.91[CEU][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12888204	0.84[AMR][1000 genomes]
rs12891038	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12893236	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs12895578	0.99[ASN][1000 genomes]
rs1403	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1535137	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1546975	0.86[CEU][hapmap]
rs17106535	0.82[ASN][1000 genomes]
rs17106539	0.83[ASN][1000 genomes]
rs1950517	0.88[CEU][hapmap]
rs1950883	0.85[CEU][hapmap];0.83[ASN][1000 genomes]
rs1950884	0.96[CEU][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1950886	0.92[CEU][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1955756	0.88[CEU][hapmap]
rs1955938	0.86[CEU][hapmap]
rs1955939	0.86[CEU][hapmap]
rs1998140	0.88[CEU][hapmap];0.82[ASN][1000 genomes]
rs2019217	0.80[EUR][1000 genomes]
rs2064669	0.86[CEU][hapmap]
rs2093119	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2103890	0.91[CEU][hapmap]
rs2145179	0.86[CEU][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2180632	0.92[CEU][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2415389	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2415391	0.84[ASN][1000 genomes]
rs28524861	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28663019	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34138206	0.85[EUR][1000 genomes]
rs34164918	0.80[EUR][1000 genomes]
rs34169316	0.83[ASN][1000 genomes]
rs34613310	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35276662	0.84[ASN][1000 genomes]
rs35322850	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs35424693	0.84[EUR][1000 genomes]
rs3861484	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3985275	0.91[CEU][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4576980	0.88[CEU][hapmap]
rs4605060	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4900692	0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4900820	0.86[CEU][hapmap]
rs61988264	0.80[EUR][1000 genomes]
rs61988280	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988284	0.80[EUR][1000 genomes]
rs61988286	0.80[EUR][1000 genomes]
rs61988287	0.80[EUR][1000 genomes]
rs61988304	0.85[EUR][1000 genomes]
rs61988307	0.85[EUR][1000 genomes]
rs61988339	0.82[ASN][1000 genomes]
rs6571791	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs6571798	0.85[EUR][1000 genomes]
rs68051257	0.85[EUR][1000 genomes]
rs714229	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs714230	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7142673	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7142924	0.88[EUR][1000 genomes]
rs7143494	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7143703	0.80[EUR][1000 genomes]
rs7143872	0.82[CEU][hapmap];0.91[EUR][1000 genomes]
rs7143938	0.95[CEU][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7145768	0.84[CEU][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7146935	0.85[EUR][1000 genomes]
rs7148710	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7149939	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7151222	0.88[CEU][hapmap]
rs7151497	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7153180	0.91[CEU][hapmap]
rs7157361	0.80[EUR][1000 genomes]
rs72671718	0.81[EUR][1000 genomes]
rs72671734	0.82[ASN][1000 genomes]
rs8004700	0.88[EUR][1000 genomes]
rs8005945	0.85[EUR][1000 genomes]
rs8007251	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8009361	0.84[ASN][1000 genomes]
rs8012018	1.00[CEU][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8012643	0.85[EUR][1000 genomes]
rs8013855	0.84[EUR][1000 genomes]
rs8014303	0.80[EUR][1000 genomes]
rs8015022	0.86[EUR][1000 genomes]
rs8015159	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018823	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs8019549	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8021181	0.80[EUR][1000 genomes]
rs8022156	0.80[EUR][1000 genomes]
rs910509	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9322977	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs987826	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534288	chr14:37254539-37697745	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1043410	chr14:37556357-37671059	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv530038	chr14:37590543-38336191	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv915783	chr14:37607836-38002966	Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1036854	chr14:37609535-38013533	Active TSS ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv542045	chr14:37609535-38013533	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv901635	chr14:37623177-37782273	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	esv3528451	chr14:37631483-37771365	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv3527359	chr14:37631504-37771435	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	esv3370191	chr14:37631508-37771354	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	esv3527360	chr14:37631521-37771311	Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	esv3528462	chr14:37631535-37771345	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv3528473	chr14:37631543-37771255	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	esv3527361	chr14:37631554-37771408	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	esv3528484	chr14:37631599-37771228	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	esv3527363	chr14:37631608-37771230	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	esv3367731	chr14:37642250-37668518	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37657400-37666600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:37657800-37666600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr14:37663800-37666400	Enhancers	HUVEC	blood vessel
4	chr14:37664000-37666000	Enhancers	Stomach Mucosa	stomach
5	chr14:37664000-37666200	Enhancers	HepG2	liver
6	chr14:37664400-37666200	Enhancers	NHDF-Ad	bronchial
7	chr14:37664600-37666000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:37664800-37666000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:37664800-37666200	Weak transcription	HMEC	breast
10	chr14:37664800-37666400	Weak transcription	NHEK	skin
11	chr14:37664800-37666400	Weak transcription	NHLF	lung
12	chr14:37665000-37666000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:37665000-37666200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr14:37665000-37666200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:37665400-37666600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:37665400-37668600	Active TSS	K562	blood
17	chr14:37665600-37666000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr14:37665800-37666000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:37665800-37666000	Enhancers	Esophagus	oesophagus
20	chr14:37665800-37666200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr14:37665800-37666200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:37665800-37666200	Enhancers	Gastric	stomach
23	chr14:37665800-37666400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:37665800-37666400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:37665800-37666400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:37665800-37666400	Enhancers	Fetal Muscle Trunk	muscle
27	chr14:37665800-37667800	Active TSS	Colon Smooth Muscle	Colon

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