Variant report

Variant	rs1228043
Chromosome Location	chr11:48013445-48013446
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:48013018..48014696-chr11:48016577..48019365,2	MCF-7	breast:
2	chr11:48011771..48014595-chr11:48017994..48019667,2	K562	blood:
3	chr11:48000928..48002542-chr11:48012583..48014769,2	K562	blood:
4	chr11:48011295..48013475-chr11:48013764..48015268,2	MCF-7	breast:
5	chr11:48003107..48006285-chr11:48013442..48016525,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149177	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12275829	1.00[EUR][1000 genomes]
rs1228017	1.00[EUR][1000 genomes]
rs12295233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1234515	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1630025	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1681612	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1681626	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2626565	0.85[AMR][1000 genomes]
rs900696	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48004000-48014600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:48005800-48018000	Weak transcription	Placenta	Placenta
3	chr11:48009200-48014800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:48009400-48014000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr11:48009400-48015200	Weak transcription	Osteobl	bone
6	chr11:48009800-48017200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:48010400-48018000	Weak transcription	Spleen	Spleen
8	chr11:48011000-48014000	Enhancers	Primary B cells from peripheral blood	blood
9	chr11:48011400-48013600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr11:48011400-48013600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr11:48011400-48014000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:48011400-48015400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr11:48012000-48013800	Enhancers	Primary T cells fromperipheralblood	blood
14	chr11:48012000-48014800	Enhancers	Primary T cells from cord blood	blood
15	chr11:48012400-48014800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr11:48012400-48016800	Weak transcription	Pancreas	Pancrea
17	chr11:48012400-48017200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:48012600-48013600	Enhancers	HUVEC	blood vessel
19	chr11:48012800-48013800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr11:48012800-48015400	Enhancers	NH-A	brain
21	chr11:48013000-48013800	Genic enhancers	Fetal Intestine Small	intestine
22	chr11:48013000-48014000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:48013000-48014000	Enhancers	Primary B cells from cord blood	blood
24	chr11:48013200-48013800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr11:48013200-48014800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:48013200-48015400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr11:48013200-48016600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr11:48013200-48016800	Weak transcription	Colonic Mucosa	Colon
29	chr11:48013200-48016800	Weak transcription	Fetal Muscle Leg	muscle
30	chr11:48013200-48018000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr11:48013200-48018000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:48013200-48018000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr11:48013200-48019200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:48013200-48020400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:48013200-48020600	Weak transcription	Right Atrium	heart
36	chr11:48013200-48023400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:48013200-48025600	Weak transcription	HSMMtube	muscle
38	chr11:48013400-48013600	Enhancers	Fetal Heart	heart
39	chr11:48013400-48013600	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr11:48013400-48013800	Weak transcription	Lung	lung
41	chr11:48013400-48014000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr11:48013400-48014000	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr11:48013400-48014200	Enhancers	A549	lung
44	chr11:48013400-48014400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:48013400-48014400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:48013400-48014400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:48013400-48014400	Weak transcription	Liver	Liver
48	chr11:48013400-48014600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:48013400-48014600	Weak transcription	NHDF-Ad	bronchial
50	chr11:48013400-48014800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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