Variant report

Variant	rs67235936
Chromosome Location	chr13:49780477-49780478
allele	AACTTA/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:49774919..49777851-chr13:49778134..49781033,2	K562	blood:
2	chr13:49778555..49782016-chr13:49792291..49795545,3	K562	blood:
3	chr13:49778880..49780737-chr13:49787050..49789935,2	K562	blood:

Variant related genes	Relation type
ENSG00000102539	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1013347	0.87[AMR][1000 genomes]
rs12184794	0.83[AMR][1000 genomes]
rs12871418	0.84[AMR][1000 genomes]
rs1407827	0.83[EUR][1000 genomes]
rs1535922	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1937181	0.84[AMR][1000 genomes]
rs1983805	0.83[EUR][1000 genomes]
rs2147399	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2897689	0.82[EUR][1000 genomes]
rs2994377	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2994378	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34360275	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35018425	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4245350	0.95[EUR][1000 genomes]
rs6561504	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6561506	0.83[AMR][1000 genomes]
rs6561507	0.83[AMR][1000 genomes]
rs7139746	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7139819	0.91[EUR][1000 genomes]
rs716722	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7317908	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7331917	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7333285	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7338304	0.83[AMR][1000 genomes]
rs7338529	0.82[EUR][1000 genomes]
rs7990573	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7994845	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7996151	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8002911	0.82[AMR][1000 genomes]
rs9526525	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9526531	0.84[AMR][1000 genomes]
rs9526532	0.85[AMR][1000 genomes]
rs9535145	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9535154	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9535155	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535156	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9535166	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9535167	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535170	0.84[AMR][1000 genomes]
rs9535172	0.88[AMR][1000 genomes]
rs9562870	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9568169	0.84[AMR][1000 genomes]
rs9568171	0.83[AMR][1000 genomes]
rs9568172	0.84[AMR][1000 genomes]
rs9568173	0.83[AMR][1000 genomes]
rs9591247	0.82[AMR][1000 genomes]
rs9596064	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9596073	0.83[AMR][1000 genomes]
rs972297	0.89[AMR][1000 genomes];0.92[EUR][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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv1793883	chr13:49543723-49789164	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases
3	nsv832607	chr13:49756458-49920894	Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49687600-49789000	Weak transcription	Stomach Mucosa	stomach
2	chr13:49737800-49788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:49738400-49785200	Strong transcription	Liver	Liver
4	chr13:49738600-49785000	Strong transcription	Dnd41	blood
5	chr13:49739600-49786400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:49740200-49786000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:49740400-49784800	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr13:49740600-49786600	Strong transcription	Placenta	Placenta
9	chr13:49741600-49783400	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr13:49742600-49783400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr13:49745600-49783400	Strong transcription	Duodenum Mucosa	Duodenum
12	chr13:49748800-49790600	Weak transcription	K562	blood
13	chr13:49753200-49787600	Weak transcription	Psoas Muscle	Psoas
14	chr13:49756600-49785400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:49756600-49786400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:49756800-49782800	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr13:49759400-49785000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr13:49759600-49783400	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr13:49759800-49783000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr13:49759800-49783200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr13:49760000-49783400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr13:49760000-49785000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr13:49762800-49789200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:49763000-49788600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr13:49763400-49789200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr13:49764000-49782600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr13:49764400-49783400	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr13:49765600-49793800	Weak transcription	A549	lung
29	chr13:49767600-49782200	Weak transcription	Fetal Brain Male	brain
30	chr13:49768600-49786600	Strong transcription	HSMM	muscle
31	chr13:49769000-49781800	Strong transcription	GM12878-XiMat	blood
32	chr13:49769800-49782800	Strong transcription	Fetal Intestine Large	intestine
33	chr13:49769800-49783000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr13:49769800-49785400	Strong transcription	Fetal Thymus	thymus
35	chr13:49770000-49783600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr13:49770000-49784800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr13:49770600-49785000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr13:49770800-49783800	Strong transcription	HUVEC	blood vessel
39	chr13:49771000-49782000	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr13:49771000-49782800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr13:49771000-49783200	Strong transcription	Primary B cells from cord blood	blood
42	chr13:49771000-49786600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr13:49771600-49782800	Strong transcription	HepG2	liver
44	chr13:49771800-49782800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr13:49772800-49788600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr13:49772800-49789000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr13:49772800-49789000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr13:49773000-49789600	Weak transcription	NHEK	skin
49	chr13:49773400-49788000	Weak transcription	NHLF	lung
50	chr13:49773400-49788800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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