Variant report

Variant	rs1432614
Chromosome Location	chr5:127416919-127416920
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:127416900-127417050	GM12868	blood:	n/a	n/a
2	POLR2A	chr5:127416591-127419822	MCF10A-Er-Src	breast:	n/a	n/a
3	CTCF	chr5:127416900-127417050	BJ	skin:	n/a	n/a
4	POLR2A	chr5:127416566-127417166	GM12892	blood:	n/a	n/a
5	CTCF	chr5:127416860-127417010	AoAF	blood vessel:	n/a	n/a
6	KAP1	chr5:127416892-127417660	HEK293	kidney:	n/a	n/a
7	CTCF	chr5:127416800-127416950	GM12872	blood:	n/a	n/a
8	MXI1	chr5:127416807-127421055	SK-N-SH	brain:	n/a	chr5:127418982-127418997
9	CTCF	chr5:127416860-127417070	HAc	cerebellar:	n/a	n/a
10	POLR2A	chr5:127416346-127417335	GM12878	blood:	n/a	n/a
11	CTCF	chr5:127416890-127417645	K562	blood:	n/a	n/a
12	POLR2A	chr5:127416754-127420919	GM18505	blood:	n/a	n/a
13	POLR2A	chr5:127416814-127420822	GM19099	blood:	n/a	n/a
14	MAX	chr5:127416877-127417096	K562	blood:	n/a	n/a
15	POLR2A	chr5:127415676-127419783	GM12891	blood:	n/a	n/a
16	CTCF	chr5:127416900-127417050	HepG2	liver:	n/a	n/a
17	E2F6	chr5:127416903-127417063	K562	blood:	n/a	n/a
18	POLR2A	chr5:127416117-127419653	K562	blood:	n/a	n/a
19	POLR2A	chr5:127415707-127420942	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:127410989..127412593-chr5:127415197..127417314,3	K562	blood:
2	chr5:127267226..127272789-chr5:127416073..127421756,7	MCF-7	breast:
3	chr5:127267836..127272333-chr5:127416528..127421531,14	MCF-7	breast:

No data

Variant related genes	Relation type
SLC12A2	TF binding region
ENSG00000230561	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10045113	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10045307	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10057122	0.83[AMR][1000 genomes]
rs10059867	0.81[AMR][1000 genomes]
rs10060181	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10060390	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10061367	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10064098	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10064357	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10089	0.95[CEU][hapmap];0.95[JPT][hapmap]
rs1012851	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10223203	0.80[AMR][1000 genomes]
rs1036171	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10463838	0.95[CEU][hapmap];0.91[JPT][hapmap]
rs10478796	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10478798	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10478803	0.95[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11957052	0.80[AMR][1000 genomes]
rs13355233	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13356473	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13357268	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13358455	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1368270	0.84[CHB][hapmap]
rs1432615	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1559263	0.95[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes]
rs1560636	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17164310	0.95[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs17164427	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17764954	0.95[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs1842006	0.95[CEU][hapmap];0.83[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1864922	0.95[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1864923	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1962291	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1985268	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2016015	0.80[AMR][1000 genomes]
rs2054444	0.95[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2190797	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2228112	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2409109	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2898096	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3087889	0.95[CEU][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes]
rs35212223	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3792866	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3805604	0.80[CHB][hapmap]
rs3805606	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3805607	0.95[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3805612	0.95[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes]
rs3805615	0.95[CEU][hapmap];0.90[JPT][hapmap]
rs3816006	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4835939	0.85[CHB][hapmap]
rs4835940	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835941	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4835943	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4835944	0.95[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap]
rs4835945	0.81[AMR][1000 genomes]
rs4836358	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4836359	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4836360	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4836361	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4836362	0.80[CHB][hapmap]
rs4836363	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4836365	0.80[CHB][hapmap]
rs4836366	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4836367	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4836368	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4836369	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4836370	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs56066100	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs58433932	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60964984	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62373701	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595798	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6595800	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595806	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6862701	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6873339	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6879970	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6887847	0.95[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72794396	0.81[ASN][1000 genomes]
rs72794400	0.80[AMR][1000 genomes]
rs736969	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs758179	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7703634	0.95[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes]
rs7713860	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7718286	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7732599	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs790156	0.95[YRI][hapmap]
rs806100	0.91[YRI][hapmap]
rs883074	0.85[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs891886	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9968597	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813981	chr5:127327649-127437401	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv4993	chr5:127405214-127445622	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv3527607	chr5:127406703-127421401	Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv3527608	chr5:127406703-127421401	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv1812864	chr5:127408921-127427533	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv599678	chr5:127409159-127418738	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv599683	chr5:127409374-127418738	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv599695	chr5:127409804-127418738	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127333600-127417800	Weak transcription	Pancreas	Pancrea
2	chr5:127374600-127418000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr5:127379000-127417400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr5:127386600-127417000	Weak transcription	Adipose Nuclei	Adipose
5	chr5:127389600-127417000	Weak transcription	Fetal Heart	heart
6	chr5:127390200-127417600	Weak transcription	Psoas Muscle	Psoas
7	chr5:127391000-127417600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:127394200-127418000	Weak transcription	Lung	lung
9	chr5:127396000-127417000	Weak transcription	Ovary	ovary
10	chr5:127398400-127417400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:127399000-127417400	Weak transcription	HSMM	muscle
12	chr5:127406200-127417000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:127409200-127418000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:127409400-127417800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:127410000-127417600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:127410000-127418000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:127410200-127417000	Weak transcription	Aorta	Aorta
18	chr5:127410200-127417000	Weak transcription	Fetal Kidney	kidney
19	chr5:127410200-127417800	Weak transcription	Left Ventricle	heart
20	chr5:127413000-127417600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr5:127414000-127417800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr5:127414200-127417600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:127414200-127418000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr5:127414400-127417000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr5:127414400-127417400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr5:127414400-127417600	Enhancers	Primary T cells from cord blood	blood
27	chr5:127414800-127417200	Weak transcription	Right Atrium	heart
28	chr5:127414800-127417800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr5:127415000-127417200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr5:127415000-127417400	Enhancers	Brain Substantia Nigra	brain
31	chr5:127415000-127417600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr5:127415000-127417600	Weak transcription	Brain Germinal Matrix	brain
33	chr5:127415200-127417400	Weak transcription	NHLF	lung
34	chr5:127415400-127417000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:127415400-127417200	Enhancers	Small Intestine	intestine
36	chr5:127415400-127417400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr5:127415600-127417000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:127415600-127417000	Weak transcription	Right Ventricle	heart
39	chr5:127415600-127417600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr5:127415800-127417000	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr5:127415800-127417200	Weak transcription	Fetal Brain Female	brain
42	chr5:127415800-127417600	Weak transcription	Fetal Thymus	thymus
43	chr5:127415800-127417600	Weak transcription	Gastric	stomach
44	chr5:127415800-127418000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr5:127416000-127417000	Enhancers	Brain Anterior Caudate	brain
46	chr5:127416000-127417400	Flanking Active TSS	K562	blood
47	chr5:127416000-127418000	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr5:127416200-127417000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr5:127416200-127417000	Enhancers	Colon Smooth Muscle	Colon
50	chr5:127416200-127417000	Enhancers	Stomach Mucosa	stomach

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