Variant report

Variant	rs4880762
Chromosome Location	chr10:1145683-1145684
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	chr10:1137427..1142070-chr10:1143618..1146472,4	K562	blood:
2	chr10:1143924..1146120-chr10:1147738..1149529,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1079387	0.93[YRI][hapmap]
rs11250238	0.86[YRI][hapmap]
rs11250259	1.00[AMR][1000 genomes]
rs1135416	0.87[YRI][hapmap]
rs1871627	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs1871628	1.00[AMR][1000 genomes]
rs2086381	1.00[AMR][1000 genomes]
rs4403737	1.00[AMR][1000 genomes]
rs4880764	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7068520	1.00[AMR][1000 genomes]
rs7071817	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs7091153	1.00[AMR][1000 genomes]
rs9783192	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv540386	chr10:224406-1197416	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv530116	chr10:776548-1401075	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv1052540	chr10:887562-1300134	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv540407	chr10:887562-1300134	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv533861	chr10:945438-1382068	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv530117	chr10:945438-1729634	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv540408	chr10:955835-1260680	Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv817532	chr10:964660-1885945	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1050577	chr10:986723-1277854	Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv540409	chr10:986723-1277854	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer 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	30 gene(s)	inside rSNPs	diseases
11	nsv949405	chr10:1010464-1376105	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv1048254	chr10:1016006-1146595	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv894722	chr10:1058837-1274538	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
14	nsv1046220	chr10:1064024-1188998	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
15	nsv894723	chr10:1073684-1259485	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	24 gene(s)	inside rSNPs	diseases
16	nsv894725	chr10:1110464-1421516	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
17	nsv1054432	chr10:1115626-1230431	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
18	nsv1041498	chr10:1117200-1760190	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	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	chr10:1117800-1168600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr10:1118000-1156400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr10:1118000-1168400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr10:1118000-1173800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr10:1121400-1154400	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr10:1122200-1168400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr10:1122600-1168800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr10:1123000-1168600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr10:1123200-1145800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr10:1123200-1155200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr10:1123200-1155800	Strong transcription	Dnd41	blood
12	chr10:1123200-1178400	Strong transcription	Liver	Liver
13	chr10:1123400-1147800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr10:1123400-1155400	Strong transcription	Placenta	Placenta
15	chr10:1123400-1177800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr10:1123800-1155600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr10:1123800-1156000	Strong transcription	Primary T cells from cord blood	blood
18	chr10:1124200-1178000	Strong transcription	Primary B cells from cord blood	blood
19	chr10:1124400-1155800	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr10:1127800-1148200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:1127800-1153000	Strong transcription	Fetal Muscle Leg	muscle
22	chr10:1127800-1156200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr10:1127800-1179000	Strong transcription	Fetal Stomach	stomach
24	chr10:1128000-1155400	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr10:1128000-1155400	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr10:1128000-1156400	Strong transcription	Fetal Intestine Small	intestine
27	chr10:1128200-1156200	Strong transcription	Fetal Intestine Large	intestine
28	chr10:1128200-1156400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr10:1129400-1179000	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr10:1130000-1155800	Strong transcription	NHEK	skin
31	chr10:1133000-1148000	Strong transcription	Lung	lung
32	chr10:1133000-1151200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr10:1133000-1155800	Weak transcription	A549	lung
34	chr10:1133200-1154400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr10:1135600-1148800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr10:1136000-1156400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr10:1137200-1149400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr10:1137800-1148000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr10:1138600-1155400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr10:1138600-1155800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr10:1138600-1162800	Strong transcription	Thymus	Thymus
42	chr10:1138600-1178600	Strong transcription	Adipose Nuclei	Adipose
43	chr10:1138800-1155400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr10:1138800-1159400	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr10:1139000-1146000	Strong transcription	HepG2	liver
46	chr10:1139000-1155400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr10:1139200-1146000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr10:1139200-1146000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr10:1139200-1147800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr10:1139200-1148800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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