Variant report

Variant	rs7139746
Chromosome Location	chr13:49784367-49784368
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49775679..49778622-chr13:49783587..49785713,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1013347	0.81[AMR][1000 genomes]
rs1359066	0.95[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap]
rs1407827	0.95[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs1407829	0.95[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap]
rs1535922	1.00[CEU][hapmap];0.98[GIH][hapmap];0.90[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1928109	0.86[CEU][hapmap]
rs1937181	1.00[CEU][hapmap]
rs1983805	0.95[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs2026029	0.95[CEU][hapmap];0.87[CHB][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap]
rs2075610	0.86[CHD][hapmap];0.86[GIH][hapmap]
rs2146748	1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs2147399	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2181539	0.89[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes]
rs2183095	0.83[ASW][hapmap];0.91[CEU][hapmap];0.98[GIH][hapmap];0.95[LWK][hapmap];0.86[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap]
rs2407266	1.00[CEU][hapmap];0.98[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap]
rs2897633	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap]
rs2897689	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs2994377	1.00[CEU][hapmap];0.98[GIH][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap]
rs2994378	1.00[CEU][hapmap];0.98[GIH][hapmap];0.90[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap]
rs2994379	1.00[CEU][hapmap];0.98[GIH][hapmap];0.90[LWK][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap]
rs2994380	0.83[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap]
rs3012116	1.00[CEU][hapmap];0.98[GIH][hapmap];0.90[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap]
rs3012117	0.83[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap]
rs3012121	1.00[CEU][hapmap];0.98[GIH][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap]
rs3012127	1.00[CEU][hapmap]
rs35018425	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4142065	0.95[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs4245350	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4530025	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs4942796	0.95[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap]
rs4942799	0.95[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap]
rs4942800	0.95[CEU][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.95[TSI][hapmap]
rs6561496	0.89[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes]
rs6561497	0.89[ASW][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.95[LWK][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap]
rs6561504	0.95[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67235936	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7139819	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs716722	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7317908	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7333097	0.87[CHB][hapmap];0.86[CHD][hapmap]
rs7333285	0.95[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7338529	0.95[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs7983885	0.95[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap]
rs7986624	0.86[CEU][hapmap];0.87[CHB][hapmap]
rs7987258	0.87[CEU][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap]
rs7988168	0.89[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap]
rs7989175	0.87[CHB][hapmap];0.84[CHD][hapmap]
rs7990573	0.82[AMR][1000 genomes]
rs7994845	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7994910	0.95[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap]
rs7995616	0.95[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap]
rs7996151	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9316428	1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs9316429	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs9526518	1.00[CEU][hapmap];0.83[CHB][hapmap];0.98[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs9526520	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs9526521	0.98[GIH][hapmap]
rs9526525	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9526526	0.81[ASN][1000 genomes]
rs9535136	1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs9535145	1.00[CEU][hapmap];0.98[GIH][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap]
rs9535146	1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs9535147	0.95[CEU][hapmap];0.87[CHB][hapmap]
rs9535149	1.00[CEU][hapmap];0.87[CHB][hapmap]
rs9535154	1.00[CEU][hapmap];0.98[GIH][hapmap];0.90[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap]
rs9535155	0.83[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];0.95[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9535156	0.95[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9535166	1.00[CEU][hapmap];0.98[GIH][hapmap];0.90[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9535167	0.83[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9535172	0.82[AMR][1000 genomes]
rs9562866	0.89[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap]
rs9562870	0.95[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9568150	1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs9568151	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[AMR][1000 genomes]
rs9568154	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs9568169	0.86[CHD][hapmap];0.86[GIH][hapmap];0.82[MEX][hapmap]
rs9596064	0.82[AMR][1000 genomes]
rs972297	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[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	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:124 , 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	chr13:49748800-49790600	Weak transcription	K562	blood
10	chr13:49753200-49787600	Weak transcription	Psoas Muscle	Psoas
11	chr13:49756600-49785400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr13:49756600-49786400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:49759400-49785000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr13:49760000-49785000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr13:49762800-49789200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:49763000-49788600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr13:49763400-49789200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr13:49765600-49793800	Weak transcription	A549	lung
19	chr13:49768600-49786600	Strong transcription	HSMM	muscle
20	chr13:49769800-49785400	Strong transcription	Fetal Thymus	thymus
21	chr13:49770000-49784800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr13:49770600-49785000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr13:49771000-49786600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:49772800-49788600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr13:49772800-49789000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr13:49772800-49789000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr13:49773000-49789600	Weak transcription	NHEK	skin
28	chr13:49773400-49788000	Weak transcription	NHLF	lung
29	chr13:49773400-49788800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr13:49773400-49789200	Weak transcription	Brain Angular Gyrus	brain
31	chr13:49773600-49788800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr13:49773800-49784800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr13:49773800-49784800	Weak transcription	Fetal Intestine Small	intestine
34	chr13:49773800-49788800	Weak transcription	Gastric	stomach
35	chr13:49773800-49788800	Weak transcription	Spleen	Spleen
36	chr13:49774000-49789200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr13:49776000-49784800	Strong transcription	NH-A	brain
38	chr13:49776400-49786800	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr13:49776800-49785200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr13:49777200-49789000	Weak transcription	Small Intestine	intestine
41	chr13:49777400-49788800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr13:49778000-49793800	Weak transcription	Right Ventricle	heart
43	chr13:49778200-49784800	Weak transcription	Fetal Stomach	stomach
44	chr13:49778200-49786400	Weak transcription	Aorta	Aorta
45	chr13:49778200-49787600	Weak transcription	Brain Substantia Nigra	brain
46	chr13:49778200-49788800	Weak transcription	Pancreas	Pancrea
47	chr13:49778200-49789200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr13:49778200-49789200	Weak transcription	Esophagus	oesophagus
49	chr13:49778600-49788800	Weak transcription	Fetal Heart	heart
50	chr13:49779400-49787200	Weak transcription	Brain Cingulate Gyrus	brain

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