Variant report

Variant	rs7224403
Chromosome Location	chr17:15940525-15940526
allele	C/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	POLR2A	chr17:15940211-15941355	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000227782	TF binding region

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1073093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1073094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1073095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11078322	0.85[EUR][1000 genomes]
rs11554356	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16959491	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs16959521	0.85[EUR][1000 genomes]
rs16959544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16959547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17715109	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3744328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3760295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3760296	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4791659	0.85[EUR][1000 genomes]
rs4792714	0.85[EUR][1000 genomes]
rs55978925	1.00[ASN][1000 genomes]
rs56054575	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56190835	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56195102	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56258621	0.85[EUR][1000 genomes]
rs56375441	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56733317	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57825293	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58883023	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59172522	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59665399	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59749475	0.85[EUR][1000 genomes]
rs60011951	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60198485	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61352879	0.93[EUR][1000 genomes]
rs61365058	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61530520	0.92[ASN][1000 genomes]
rs62073589	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6502484	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502486	0.85[EUR][1000 genomes]
rs6502487	0.85[EUR][1000 genomes]
rs6502496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7207901	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7210264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7212804	0.85[EUR][1000 genomes]
rs7212874	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7213125	0.85[EUR][1000 genomes]
rs7218152	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7218471	0.92[ASN][1000 genomes]
rs7219263	0.93[EUR][1000 genomes]
rs7220790	0.85[EUR][1000 genomes]
rs7223409	0.93[EUR][1000 genomes]
rs7225813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73978569	0.86[ASN][1000 genomes]
rs73978571	0.86[ASN][1000 genomes]
rs73978591	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978592	0.85[EUR][1000 genomes]
rs73978593	0.85[EUR][1000 genomes]
rs73978594	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978596	0.85[EUR][1000 genomes]
rs73978602	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73981406	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73981410	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73981413	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73981414	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73981417	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73981421	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73981425	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73981431	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73981433	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73981436	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73981438	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73981440	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73981442	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73981443	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73981444	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73981445	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73981447	0.93[EUR][1000 genomes]
rs73981450	0.93[EUR][1000 genomes]
rs73981464	0.86[EUR][1000 genomes]
rs8067494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8070719	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8073693	0.85[EUR][1000 genomes]
rs8074888	0.85[EUR][1000 genomes]
rs8077643	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8078888	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8079698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
5	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv1067555	chr17:15804228-16001117	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
9	nsv907707	chr17:15846535-15950751	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv907708	chr17:15851196-15950751	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv907710	chr17:15854257-15950751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv1062220	chr17:15869557-16093156	Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
13	nsv1064878	chr17:15869557-16097241	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
14	nsv1055173	chr17:15875935-16097241	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
15	nsv1056157	chr17:15890584-16088473	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
16	nsv833377	chr17:15912013-16104515	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
17	nsv522169	chr17:15923709-16147821	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
18	esv1792054	chr17:15934025-16010920	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15905000-15946400	Strong transcription	HUES48 Cell Line	embryonic stem cell
2	chr17:15905200-15986400	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr17:15905400-15946600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr17:15913800-15990800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr17:15915400-15998000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr17:15917400-15952800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr17:15921000-15946600	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr17:15921000-15991000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr17:15921000-15991200	Strong transcription	Primary B cells from peripheral blood	blood
10	chr17:15921400-15944400	Strong transcription	Duodenum Mucosa	Duodenum
11	chr17:15921400-15947000	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr17:15921400-15955000	Strong transcription	Dnd41	blood
13	chr17:15921600-15941000	Strong transcription	Placenta	Placenta
14	chr17:15921600-15952400	Strong transcription	Primary T cells from cord blood	blood
15	chr17:15923400-15941400	Weak transcription	Psoas Muscle	Psoas
16	chr17:15923800-15998000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr17:15924000-15944000	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr17:15925200-15952800	Strong transcription	Primary B cells from cord blood	blood
19	chr17:15925400-15943600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr17:15925600-15948000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr17:15926600-15944000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr17:15926800-15944000	Strong transcription	Fetal Intestine Large	intestine
23	chr17:15926800-15952600	Strong transcription	Adipose Nuclei	Adipose
24	chr17:15926800-15985400	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr17:15926800-15987600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr17:15927000-15944200	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr17:15927000-15945000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr17:15927000-15953400	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr17:15927200-15942600	Strong transcription	HepG2	liver
30	chr17:15927200-15943400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr17:15927200-15956000	Strong transcription	Fetal Muscle Leg	muscle
32	chr17:15927200-15976400	Strong transcription	Fetal Muscle Trunk	muscle
33	chr17:15927600-15941400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr17:15927800-15943400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr17:15927800-15954400	Strong transcription	Fetal Thymus	thymus
36	chr17:15927800-15971600	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr17:15927800-15987800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr17:15928200-15940600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr17:15928200-15952800	Strong transcription	Thymus	Thymus
40	chr17:15928200-15953000	Strong transcription	Left Ventricle	heart
41	chr17:15931800-15947600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr17:15931800-15952600	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr17:15931800-15988800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr17:15932000-15942600	Weak transcription	Stomach Mucosa	stomach
45	chr17:15932000-15946800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr17:15932000-15947800	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr17:15932000-15952600	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr17:15932200-15953200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr17:15932400-15943400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr17:15932400-15953000	Strong transcription	Primary T helper cells PMA-I stimulated	--

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