Variant report

Variant	rs1228037
Chromosome Location	chr11:48028689-48028690
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:48023010..48025902-chr11:48026149..48029415,3	K562	blood:
2	chr11:48028573..48030899-chr11:48036273..48038160,2	K562	blood:
3	chr11:48026525..48028849-chr11:48051139..48053523,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254879	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11039489	1.00[AMR][1000 genomes]
rs11039492	1.00[AMR][1000 genomes]
rs11039506	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039507	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11822835	1.00[AMR][1000 genomes]
rs11825374	1.00[AMR][1000 genomes]
rs12272622	1.00[AMR][1000 genomes]
rs12275893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279082	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228011	1.00[AMR][1000 genomes]
rs1228016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228045	1.00[AMR][1000 genomes]
rs1228051	0.91[AFR][1000 genomes]
rs12288995	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290640	0.91[AFR][1000 genomes]
rs12294321	1.00[AMR][1000 genomes]
rs12294477	1.00[AMR][1000 genomes]
rs1681606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1681638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2697809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2930185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2930187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2950886	0.95[AFR][1000 genomes]
rs2950889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4387319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7102191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7941419	1.00[AMR][1000 genomes]
rs900700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs922959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv897326	chr11:47891334-48035474	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS 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 miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS 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 miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1053145	chr11:47967902-48086950	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv870381	chr11:47989434-48142648	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
12	esv3396029	chr11:47993857-48241494	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
13	nsv528641	chr11:48004369-48043053	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv897327	chr11:48004369-48911660	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
15	nsv869124	chr11:48014539-48783113	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
16	nsv1051805	chr11:48016488-48378048	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48018800-48042000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr11:48020600-48029800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:48021000-48029800	Enhancers	Liver	Liver
4	chr11:48024400-48032000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:48025000-48028800	Enhancers	Primary T cells from cord blood	blood
6	chr11:48025000-48029800	Enhancers	Primary B cells from peripheral blood	blood
7	chr11:48025000-48045200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr11:48025200-48029800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr11:48025600-48029000	Enhancers	Brain Hippocampus Middle	brain
10	chr11:48025600-48029400	Enhancers	Brain Substantia Nigra	brain
11	chr11:48025600-48031800	Enhancers	K562	blood
12	chr11:48025800-48028800	Enhancers	Duodenum Mucosa	Duodenum
13	chr11:48025800-48029800	Enhancers	Hela-S3	cervix
14	chr11:48026000-48028800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:48026000-48029600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:48026000-48039200	Weak transcription	Fetal Kidney	kidney
17	chr11:48026200-48029800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr11:48026200-48030400	Enhancers	Primary B cells from cord blood	blood
19	chr11:48026400-48039200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:48026800-48029600	Enhancers	NHLF	lung
21	chr11:48026800-48030000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr11:48026800-48032000	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr11:48027200-48029600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:48027400-48030000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr11:48027400-48037600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr11:48027400-48044000	Enhancers	Primary T cells fromperipheralblood	blood
27	chr11:48027600-48034800	Weak transcription	Small Intestine	intestine
28	chr11:48027800-48029000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:48027800-48029400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:48027800-48037600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr11:48027800-48037800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:48027800-48039000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr11:48028000-48028800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:48028000-48029200	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr11:48028000-48032400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:48028000-48032800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr11:48028000-48034000	Weak transcription	Fetal Intestine Large	intestine
38	chr11:48028000-48034200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr11:48028000-48034600	Weak transcription	Fetal Intestine Small	intestine
40	chr11:48028000-48038800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr11:48028200-48029200	Weak transcription	Thymus	Thymus
42	chr11:48028200-48030400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:48028200-48030400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:48028200-48030600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:48028200-48031800	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr11:48028200-48033800	Weak transcription	Placenta	Placenta
47	chr11:48028200-48034000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr11:48028200-48034800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr11:48028400-48028800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:48028400-48029000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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