Variant report

Variant	rs2392749
Chromosome Location	chr7:105182605-105182606
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:105178950..105184769-chr7:105189536..105192769,5	K562	blood:

Variant related genes	Relation type
ENSG00000135249	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs11556986	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1355614	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1569134	0.92[EUR][1000 genomes]
rs1706908	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1721498	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1721500	0.81[EUR][1000 genomes]
rs1728645	0.90[AFR][1000 genomes]
rs1728653	0.93[AFR][1000 genomes]
rs1728655	0.81[AFR][1000 genomes]
rs17343556	0.92[EUR][1000 genomes]
rs1976969	0.92[EUR][1000 genomes]
rs3892297	0.87[EUR][1000 genomes]
rs3892298	0.88[EUR][1000 genomes]
rs4074939	0.89[EUR][1000 genomes]
rs4083246	0.90[EUR][1000 genomes]
rs55691539	0.93[EUR][1000 genomes]
rs55700120	0.92[EUR][1000 genomes]
rs55740553	0.92[EUR][1000 genomes]
rs55794529	0.94[EUR][1000 genomes]
rs55825845	0.83[EUR][1000 genomes]
rs55906043	0.92[EUR][1000 genomes]
rs55922564	0.92[EUR][1000 genomes]
rs55967123	0.94[EUR][1000 genomes]
rs55983796	0.94[EUR][1000 genomes]
rs56055535	0.91[EUR][1000 genomes]
rs56165465	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56177071	0.94[EUR][1000 genomes]
rs56230603	0.87[EUR][1000 genomes]
rs56239334	0.81[EUR][1000 genomes]
rs56251768	0.94[EUR][1000 genomes]
rs56268110	0.84[EUR][1000 genomes]
rs56379434	0.92[EUR][1000 genomes]
rs68153235	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6943132	0.94[EUR][1000 genomes]
rs6944787	0.92[EUR][1000 genomes]
rs6953851	0.87[EUR][1000 genomes]
rs6955796	0.94[EUR][1000 genomes]
rs6956234	0.92[EUR][1000 genomes]
rs6956249	0.92[EUR][1000 genomes]
rs6957192	0.92[EUR][1000 genomes]
rs6957424	0.94[EUR][1000 genomes]
rs6961233	0.92[EUR][1000 genomes]
rs6961863	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6969426	0.92[EUR][1000 genomes]
rs6973263	0.94[EUR][1000 genomes]
rs6973974	0.94[EUR][1000 genomes]
rs6977748	0.92[EUR][1000 genomes]
rs711430	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs711431	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73190133	0.92[EUR][1000 genomes]
rs73190149	0.92[EUR][1000 genomes]
rs73190151	0.92[EUR][1000 genomes]
rs73190155	0.92[EUR][1000 genomes]
rs73190156	0.92[EUR][1000 genomes]
rs73190158	0.92[EUR][1000 genomes]
rs73190161	0.92[EUR][1000 genomes]
rs73190163	0.92[EUR][1000 genomes]
rs73190166	0.91[EUR][1000 genomes]
rs73190167	0.92[EUR][1000 genomes]
rs73190169	0.92[EUR][1000 genomes]
rs73190172	0.94[EUR][1000 genomes]
rs73190174	0.94[EUR][1000 genomes]
rs73190175	0.82[EUR][1000 genomes]
rs73190178	0.80[EUR][1000 genomes]
rs73190179	0.91[EUR][1000 genomes]
rs73190181	0.94[EUR][1000 genomes]
rs73190183	0.94[EUR][1000 genomes]
rs73190184	0.92[EUR][1000 genomes]
rs73190186	0.94[EUR][1000 genomes]
rs73190187	0.94[EUR][1000 genomes]
rs73190189	0.94[EUR][1000 genomes]
rs73190193	0.94[EUR][1000 genomes]
rs73190200	0.94[EUR][1000 genomes]
rs73190201	0.94[EUR][1000 genomes]
rs73190202	0.93[EUR][1000 genomes]
rs73192105	0.94[EUR][1000 genomes]
rs73192107	0.94[EUR][1000 genomes]
rs73192115	0.92[EUR][1000 genomes]
rs73192120	0.94[EUR][1000 genomes]
rs73192122	0.94[EUR][1000 genomes]
rs73192124	0.94[EUR][1000 genomes]
rs73192125	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73192126	0.94[EUR][1000 genomes]
rs73192134	0.87[EUR][1000 genomes]
rs73192141	0.86[EUR][1000 genomes]
rs73192143	0.87[EUR][1000 genomes]
rs73192144	0.84[EUR][1000 genomes]
rs73192145	0.86[EUR][1000 genomes]
rs73192149	0.83[EUR][1000 genomes]
rs73192150	0.81[EUR][1000 genomes]
rs73192151	0.81[EUR][1000 genomes]
rs73192152	0.81[EUR][1000 genomes]
rs73192153	0.81[EUR][1000 genomes]
rs7777343	0.89[EUR][1000 genomes]
rs818619	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs818620	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs818621	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs818628	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9769403	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer 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	39 gene(s)	inside rSNPs	diseases
4	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS 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	38 gene(s)	inside rSNPs	diseases
5	nsv1023767	chr7:104931143-105190662	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv539049	chr7:104931143-105190662	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv1022065	chr7:104997315-105190662	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv888933	chr7:105012975-105193051	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv1023564	chr7:105018484-105182998	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv464668	chr7:105088693-105208492	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv608069	chr7:105088693-105208492	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' 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	nsv888935	chr7:105110990-105193051	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
13	nsv888936	chr7:105119308-105193051	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr7:105173400-105190200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:105173400-105208200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:105173400-105210200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:105173800-105183200	Weak transcription	Fetal Brain Male	brain
5	chr7:105174000-105204200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:105174000-105210200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:105174000-105212200	Weak transcription	Fetal Heart	heart
8	chr7:105174200-105210200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:105174200-105213800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:105174600-105182800	Weak transcription	Small Intestine	intestine
11	chr7:105174600-105193400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:105174600-105210400	Weak transcription	Psoas Muscle	Psoas
13	chr7:105174600-105213200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:105174800-105185200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr7:105174800-105193800	Strong transcription	K562	blood
16	chr7:105174800-105209200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:105175000-105193000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:105175000-105210400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:105175200-105187400	Weak transcription	Stomach Mucosa	stomach
20	chr7:105175200-105194000	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:105175400-105184800	Strong transcription	Osteobl	bone
22	chr7:105175400-105193000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:105175400-105193800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:105175400-105201200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr7:105175400-105211000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:105175600-105196800	Strong transcription	Fetal Stomach	stomach
27	chr7:105175600-105209600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:105175800-105184600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr7:105175800-105197800	Strong transcription	Fetal Thymus	thymus
30	chr7:105176000-105183200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:105176000-105188400	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr7:105176000-105192400	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr7:105176000-105193000	Strong transcription	Fetal Muscle Leg	muscle
34	chr7:105176000-105196800	Strong transcription	Fetal Intestine Small	intestine
35	chr7:105176000-105197400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:105176000-105208600	Strong transcription	Placenta	Placenta
37	chr7:105176000-105210000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:105176000-105210200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:105176000-105210400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:105176000-105210400	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr7:105176200-105199800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:105176200-105210400	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr7:105176200-105210400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr7:105176400-105184200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:105176400-105209200	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr7:105176600-105194000	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr7:105176600-105196800	Strong transcription	Thymus	Thymus
48	chr7:105176600-105210200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:105176800-105193000	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr7:105176800-105193200	Strong transcription	Rectal Mucosa Donor 29	rectum

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