Variant report

Variant	rs11250281
Chromosome Location	chr10:1175894-1175895
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:1174243..1176859-chr10:1177854..1179866,2	K562	blood:
2	chr10:1174647..1176500-chr10:1181400..1182944,2	K562	blood:
3	chr10:1166912..1170452-chr10:1174000..1177775,3	MCF-7	breast:
4	chr10:1174476..1176613-chr10:1184989..1187649,2	K562	blood:
5	chr10:1171152..1173930-chr10:1175637..1178615,2	K562	blood:

Variant related genes	Relation type
ENSG00000047056	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10903374	0.94[ASN][1000 genomes]
rs10903376	0.80[ASN][1000 genomes]
rs12359210	0.96[ASN][1000 genomes]
rs1912333	0.82[ASN][1000 genomes]
rs1912334	0.81[ASN][1000 genomes]
rs34859787	0.84[ASN][1000 genomes]
rs4256905	0.99[ASN][1000 genomes]
rs6560712	0.82[ASN][1000 genomes]
rs7924182	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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	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
13	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
14	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
15	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
16	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
17	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
18	nsv894726	chr10:1151620-1216861	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
19	nsv1052682	chr10:1162925-1675641	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
20	nsv466699	chr10:1166400-1351088	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
21	nsv549768	chr10:1166400-1351088	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
22	nsv1043944	chr10:1168095-1626019	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
23	nsv540411	chr10:1168095-1626019	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
24	nsv894727	chr10:1168267-1224336	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	4 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	chr10:1123200-1178400	Strong transcription	Liver	Liver
2	chr10:1123400-1177800	Strong transcription	Primary B cells from peripheral blood	blood
3	chr10:1124200-1178000	Strong transcription	Primary B cells from cord blood	blood
4	chr10:1127800-1179000	Strong transcription	Fetal Stomach	stomach
5	chr10:1129400-1179000	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr10:1138600-1178600	Strong transcription	Adipose Nuclei	Adipose
7	chr10:1144800-1232600	Weak transcription	Right Atrium	heart
8	chr10:1154000-1177200	Weak transcription	Stomach Mucosa	stomach
9	chr10:1156400-1177400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr10:1156600-1179000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:1156800-1177800	Strong transcription	Spleen	Spleen
12	chr10:1156800-1178800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr10:1156800-1179400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr10:1157000-1177000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr10:1157000-1177600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:1157000-1178600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr10:1157000-1178800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr10:1157400-1177800	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr10:1157400-1177800	Strong transcription	Stomach Smooth Muscle	stomach
20	chr10:1157800-1178200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr10:1158000-1178000	Strong transcription	Lung	lung
22	chr10:1158400-1178200	Strong transcription	Placenta	Placenta
23	chr10:1159000-1176800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr10:1159400-1177800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr10:1160200-1179000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr10:1161200-1177800	Strong transcription	Ovary	ovary
27	chr10:1161800-1177800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr10:1162800-1177800	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr10:1163800-1176000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr10:1163800-1177600	Strong transcription	Thymus	Thymus
31	chr10:1164000-1178200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr10:1165400-1177000	Weak transcription	Fetal Brain Male	brain
33	chr10:1165400-1178000	Strong transcription	Primary T cells from cord blood	blood
34	chr10:1165600-1178200	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr10:1166000-1179200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr10:1166400-1178400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr10:1166600-1178000	Strong transcription	Fetal Muscle Trunk	muscle
38	chr10:1166800-1177800	Strong transcription	Fetal Intestine Small	intestine
39	chr10:1166800-1177800	Strong transcription	Fetal Muscle Leg	muscle
40	chr10:1166800-1177800	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr10:1166800-1178200	Strong transcription	Fetal Intestine Large	intestine
42	chr10:1167000-1177600	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr10:1168200-1177000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
44	chr10:1168400-1178800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr10:1168800-1177800	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr10:1169000-1178000	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr10:1169000-1178600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr10:1169000-1178800	Strong transcription	Dnd41	blood
49	chr10:1169200-1177200	Strong transcription	Primary hematopoietic stem cells	blood
50	chr10:1169200-1178000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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