Variant report

Variant	rs13186372
Chromosome Location	chr5:43612628-43612629
allele	A/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	CTCF	chr5:43612480-43612630	BE2_C	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:43554479..43560281-chr5:43606436..43612710,12	MCF-7	breast:
2	chr5:43601763..43605743-chr5:43610640..43615837,7	K562	blood:
3	chr5:43545437..43548284-chr5:43610055..43612795,2	K562	blood:
4	chr5:43609541..43612732-chr5:43613991..43616836,3	MCF-7	breast:

Variant related genes	Relation type
NNT	TF binding region
ENSG00000172239	Chromatin interaction
ENSG00000112992	Chromatin interaction
ENSG00000248092	Chromatin interaction

Extended variants
information (count: 175 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:172)

rs_ID	r²[population]
rs10074229	0.94[ASN][1000 genomes]
rs10461741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10461742	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10461743	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10461744	0.87[ASN][1000 genomes]
rs10461747	1.00[AMR][1000 genomes]
rs10462052	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10462053	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10462054	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10462055	1.00[AMR][1000 genomes]
rs10462056	1.00[AMR][1000 genomes]
rs10462057	1.00[AMR][1000 genomes]
rs12654258	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12655350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12658205	0.83[ASN][1000 genomes]
rs13158796	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13161149	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13161298	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13161838	0.94[ASN][1000 genomes]
rs13166593	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13169851	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13170672	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13173498	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13173726	1.00[AMR][1000 genomes]
rs13174983	1.00[AMR][1000 genomes]
rs13175037	0.85[AMR][1000 genomes]
rs13175688	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13177107	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13178040	1.00[AMR][1000 genomes]
rs13179099	1.00[AMR][1000 genomes]
rs13181483	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13183122	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13183124	1.00[AMR][1000 genomes]
rs13184712	1.00[AMR][1000 genomes]
rs13187073	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13187313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13188640	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13188683	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13189630	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13356232	0.94[ASN][1000 genomes]
rs1469436	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs16873404	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16873421	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16873432	0.87[ASN][1000 genomes]
rs16873433	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16873435	0.87[ASN][1000 genomes]
rs16873438	0.87[ASN][1000 genomes]
rs16873443	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16873454	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16873455	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16873466	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16873471	1.00[AMR][1000 genomes]
rs16873502	1.00[AMR][1000 genomes]
rs2042950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2303732	1.00[AMR][1000 genomes]
rs34003086	1.00[AMR][1000 genomes]
rs34028586	1.00[AMR][1000 genomes]
rs34076603	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34079397	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34153332	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34225966	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34289650	1.00[AMR][1000 genomes]
rs34307136	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34308364	0.85[AMR][1000 genomes]
rs34330393	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34350522	0.83[ASN][1000 genomes]
rs34361701	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34369923	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34420640	1.00[AMR][1000 genomes]
rs34435369	1.00[AMR][1000 genomes]
rs34571724	1.00[AMR][1000 genomes]
rs34572440	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34577568	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34753533	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34760245	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34784550	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34814715	1.00[AMR][1000 genomes]
rs34844158	1.00[AMR][1000 genomes]
rs34897533	1.00[AMR][1000 genomes]
rs34902970	1.00[AMR][1000 genomes]
rs34985223	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35023717	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35047682	1.00[AMR][1000 genomes]
rs35069805	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35141665	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35201656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35249562	1.00[AMR][1000 genomes]
rs35370110	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35393262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35429460	1.00[AMR][1000 genomes]
rs35442919	1.00[AMR][1000 genomes]
rs35493041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35590922	0.83[ASN][1000 genomes]
rs35606071	1.00[AMR][1000 genomes]
rs35609488	1.00[AMR][1000 genomes]
rs35663171	1.00[AMR][1000 genomes]
rs35679811	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35733458	0.83[ASN][1000 genomes]
rs35738789	1.00[AMR][1000 genomes]
rs35768478	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35773835	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35818459	1.00[AMR][1000 genomes]
rs35826690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35890297	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35910245	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35979310	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36021958	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3764979	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3764980	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3792915	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3792916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3792917	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3792918	0.96[ASN][1000 genomes]
rs3792921	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3792922	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3805720	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3805721	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3805722	0.87[ASN][1000 genomes]
rs3805723	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3828695	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41271083	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4382179	1.00[AMR][1000 genomes]
rs4476731	1.00[AMR][1000 genomes]
rs62367605	0.83[EUR][1000 genomes]
rs62367607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62367633	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62367649	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62367650	0.87[ASN][1000 genomes]
rs62367651	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62367653	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62367658	1.00[AMR][1000 genomes]
rs62368561	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62368564	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62368565	1.00[AMR][1000 genomes]
rs62368567	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62368568	1.00[AMR][1000 genomes]
rs62368569	1.00[AMR][1000 genomes]
rs62368570	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62368571	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62368574	1.00[AMR][1000 genomes]
rs62368575	1.00[AMR][1000 genomes]
rs62368577	1.00[AMR][1000 genomes]
rs62368581	1.00[AMR][1000 genomes]
rs62368584	1.00[AMR][1000 genomes]
rs62368636	1.00[AMR][1000 genomes]
rs62368637	1.00[AMR][1000 genomes]
rs62368641	1.00[AMR][1000 genomes]
rs62368656	1.00[AMR][1000 genomes]
rs62369476	1.00[AMR][1000 genomes]
rs62369480	1.00[AMR][1000 genomes]
rs62369481	1.00[AMR][1000 genomes]
rs6451719	0.92[ASN][1000 genomes]
rs6451720	0.88[ASN][1000 genomes]
rs6862487	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6868763	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6893250	0.87[ASN][1000 genomes]
rs6896932	0.90[ASN][1000 genomes]
rs6898436	0.87[ASN][1000 genomes]
rs71590644	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71590645	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71629182	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71629184	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71629185	0.87[ASN][1000 genomes]
rs71629186	0.88[ASN][1000 genomes]
rs71629187	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71629189	1.00[AMR][1000 genomes]
rs71629193	1.00[AMR][1000 genomes]
rs716960	1.00[AMR][1000 genomes]
rs7713458	0.90[ASN][1000 genomes]
rs7713749	0.90[ASN][1000 genomes]
rs7716562	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7737947	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats 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	220 gene(s)	inside rSNPs	diseases
3	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43604200-43631200	Weak transcription	A549	lung
2	chr5:43604400-43613000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:43604400-43613400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:43604400-43619400	Weak transcription	Placenta	Placenta
5	chr5:43604400-43619600	Weak transcription	HMEC	breast
6	chr5:43604400-43631200	Weak transcription	Pancreas	Pancrea
7	chr5:43604400-43635000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:43604400-43649200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:43604400-43649200	Weak transcription	Esophagus	oesophagus
10	chr5:43604400-43660600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:43604600-43614000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:43604600-43624400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:43604600-43649800	Weak transcription	Colonic Mucosa	Colon
14	chr5:43604800-43613400	Weak transcription	Brain Substantia Nigra	brain
15	chr5:43604800-43630200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:43604800-43630800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:43604800-43635400	Weak transcription	Gastric	stomach
18	chr5:43604800-43635400	Weak transcription	Spleen	Spleen
19	chr5:43604800-43649800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:43605000-43613400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:43605000-43631200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:43605000-43631400	Weak transcription	Lung	lung
23	chr5:43605000-43656000	Weak transcription	Small Intestine	intestine
24	chr5:43605200-43618400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:43605400-43614000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:43605800-43625200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:43606400-43633600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr5:43606800-43648200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:43607000-43614600	Strong transcription	Fetal Muscle Leg	muscle
30	chr5:43607000-43619600	Weak transcription	NHEK	skin
31	chr5:43607800-43624200	Strong transcription	Primary T cells from cord blood	blood
32	chr5:43607800-43628200	Weak transcription	Fetal Intestine Small	intestine
33	chr5:43608200-43615000	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr5:43608200-43621400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr5:43608400-43617000	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr5:43608400-43624600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:43608400-43633600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr5:43608400-43640600	Strong transcription	Dnd41	blood
39	chr5:43608600-43613800	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr5:43608600-43617000	Strong transcription	Primary B cells from cord blood	blood
41	chr5:43608600-43620200	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr5:43608600-43620200	Strong transcription	NHDF-Ad	bronchial
43	chr5:43608600-43624200	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr5:43608600-43624400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:43608600-43624600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr5:43608600-43624600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:43608800-43614200	Strong transcription	Liver	Liver
48	chr5:43608800-43620200	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr5:43608800-43624800	Strong transcription	Fetal Thymus	thymus
50	chr5:43609000-43615600	Weak transcription	HUVEC	blood vessel

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