Variant report

Variant	rs72970727
Chromosome Location	chr11:93875634-93875635
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93875120..93879114-chr11:93880737..93884211,6	K562	blood:
2	chr11:93867029..93870976-chr11:93873101..93877852,6	K562	blood:
3	chr11:93861895..93865118-chr11:93874866..93877940,3	K562	blood:
4	chr11:93874386..93876238-chr11:93877234..93879680,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110218	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11828881	0.97[ASN][1000 genomes]
rs56723829	0.85[ASN][1000 genomes]
rs58049964	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58216749	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58863592	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58965645	0.85[ASN][1000 genomes]
rs59768849	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61671722	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67060752	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102046	1.00[ASN][1000 genomes]
rs7120920	1.00[ASN][1000 genomes]
rs72968739	0.87[ASN][1000 genomes]
rs72968751	0.87[ASN][1000 genomes]
rs72968770	0.85[ASN][1000 genomes]
rs72968772	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72968780	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72968785	0.85[ASN][1000 genomes]
rs72968788	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72968791	0.89[ASN][1000 genomes]
rs72970708	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72970709	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72970719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73512252	1.00[ASN][1000 genomes]
rs7925027	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898183	chr11:93725384-93906735	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription 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	15 gene(s)	inside rSNPs	diseases
2	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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 target site	16 gene(s)	inside rSNPs	diseases
3	nsv1046092	chr11:93833446-93964452	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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 target site	12 gene(s)	inside rSNPs	diseases
4	nsv508651	chr11:93834300-93880470	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv898185	chr11:93851048-93927529	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv469980	chr11:93864321-93962121	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv468795	chr11:93864321-93964917	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv555966	chr11:93864321-93964917	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv517664	chr11:93866147-93913036	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93864000-93879800	Weak transcription	Primary T cells from cord blood	blood
2	chr11:93865400-93881600	Weak transcription	Fetal Intestine Small	intestine
3	chr11:93867000-93879800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr11:93867200-93882000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:93867600-93880000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr11:93868200-93886600	Weak transcription	Fetal Brain Female	brain
7	chr11:93868400-93880600	Weak transcription	Fetal Thymus	thymus
8	chr11:93868600-93879400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:93868800-93881000	Weak transcription	Fetal Intestine Large	intestine
10	chr11:93868800-93883800	Weak transcription	Primary B cells from cord blood	blood
11	chr11:93869000-93877400	Weak transcription	Liver	Liver
12	chr11:93869400-93877600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr11:93870200-93879200	Weak transcription	Dnd41	blood
14	chr11:93870200-93879600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr11:93870600-93881000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:93870800-93877000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:93870800-93879600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:93871200-93876400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr11:93871400-93876200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr11:93872200-93876800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr11:93872800-93875800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:93872800-93876400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr11:93872800-93876400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr11:93873400-93875800	Enhancers	HMEC	breast
25	chr11:93873400-93876800	Enhancers	HUVEC	blood vessel
26	chr11:93873600-93876600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr11:93873600-93876800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:93873600-93878200	Enhancers	NHEK	skin
29	chr11:93873600-93878600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:93873800-93879400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr11:93873800-93882200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr11:93873800-93887200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr11:93874000-93876600	Enhancers	Small Intestine	intestine
34	chr11:93874200-93877800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr11:93874200-93877800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:93874200-93879600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:93874400-93875800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:93874400-93876400	Enhancers	NHLF	lung
39	chr11:93874400-93876800	Enhancers	NHDF-Ad	bronchial
40	chr11:93874400-93880200	Enhancers	HepG2	liver
41	chr11:93874600-93875800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:93874600-93880800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr11:93874800-93876000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:93874800-93876000	Enhancers	Fetal Kidney	kidney
45	chr11:93874800-93876200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr11:93874800-93876400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:93874800-93876400	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr11:93874800-93876400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr11:93874800-93876400	Enhancers	NH-A	brain
50	chr11:93874800-93876800	Enhancers	Cortex derived primary cultured neurospheres	brain

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