Variant report

Variant	rs73424410
Chromosome Location	chr11:18609717-18609718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18546321..18548809-chr11:18607625..18610007,2	K562	blood:
2	chr11:18599363..18605712-chr11:18606522..18612149,6	MCF-7	breast:
3	chr11:18608525..18612049-chr11:18615119..18618882,10	MCF-7	breast:
4	chr11:18608840..18612225-chr11:18653403..18657833,8	MCF-7	breast:
5	chr11:18597269..18603847-chr11:18605648..18613112,11	MCF-7	breast:
6	chr11:18572038..18574109-chr11:18607520..18610133,2	MCF-7	breast:
7	chr11:18609259..18612621-chr11:18654534..18657923,6	MCF-7	breast:
8	chr11:18608159..18612115-chr11:18615596..18618860,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000151116	Chromatin interaction
ENSG00000179119	Chromatin interaction
ENSG00000074319	Chromatin interaction
ENSG00000256282	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12790143	1.00[ASN][1000 genomes]
rs16935609	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2121385	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658558	1.00[ASN][1000 genomes]
rs34242612	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56811637	1.00[ASN][1000 genomes]
rs58804032	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58988307	0.83[ASN][1000 genomes]
rs61208217	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61424905	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61752314	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106180	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110470	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73422545	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73422599	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73422601	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424413	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424436	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73424437	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73424439	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73424445	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73424447	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73424452	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73424463	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73424468	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73424475	0.83[ASN][1000 genomes]
rs7926511	1.00[ASN][1000 genomes]
rs7936497	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7936520	0.81[EUR][1000 genomes]
rs7938645	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7942526	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7951729	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs872872	0.83[ASN][1000 genomes]
rs872873	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS 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 miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv1042155	chr11:18435855-18697576	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	esv2761651	chr11:18606832-18621409	Weak transcription Enhancers Active TSS Flanking 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18584400-18609800	Weak transcription	Spleen	Spleen
2	chr11:18608800-18609800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:18608800-18609800	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr11:18608800-18609800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr11:18608800-18609800	Flanking Active TSS	Dnd41	blood
6	chr11:18608800-18610800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:18608800-18610800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:18608800-18610800	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr11:18608800-18611000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr11:18608800-18611000	Active TSS	Stomach Smooth Muscle	stomach
11	chr11:18608800-18611000	Active TSS	HSMMtube	muscle
12	chr11:18608800-18611400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr11:18608800-18612200	Active TSS	A549	lung
14	chr11:18609000-18609800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:18609000-18609800	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr11:18609000-18609800	Flanking Active TSS	Fetal Muscle Leg	muscle
17	chr11:18609000-18610000	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr11:18609000-18610600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:18609000-18611000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:18609000-18611000	Active TSS	Fetal Kidney	kidney
21	chr11:18609000-18611200	Active TSS	NHLF	lung
22	chr11:18609000-18611400	Active TSS	H1 Cell Line	embryonic stem cell
23	chr11:18609000-18611400	Active TSS	Right Atrium	heart
24	chr11:18609000-18611400	Active TSS	NHDF-Ad	bronchial
25	chr11:18609000-18611800	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr11:18609000-18611800	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr11:18609000-18611800	Active TSS	Fetal Brain Female	brain
28	chr11:18609000-18612000	Active TSS	Colonic Mucosa	Colon
29	chr11:18609200-18609800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:18609200-18609800	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr11:18609200-18609800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:18609200-18609800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:18609200-18609800	Active TSS	Brain Germinal Matrix	brain
34	chr11:18609200-18610400	Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr11:18609200-18610600	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr11:18609200-18610600	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr11:18609200-18610600	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr11:18609200-18610800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:18609200-18610800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:18609200-18610800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:18609200-18610800	Active TSS	HSMM	muscle
42	chr11:18609200-18610800	Active TSS	NH-A	brain
43	chr11:18609200-18611000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:18609200-18611000	Active TSS	Fetal Intestine Large	intestine
45	chr11:18609200-18611000	Active TSS	HMEC	breast
46	chr11:18609200-18611000	Active TSS	K562	blood
47	chr11:18609200-18611200	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr11:18609200-18611200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:18609200-18611200	Active TSS	Thymus	Thymus
50	chr11:18609200-18611400	Active TSS	H9 Cell Line	embryonic stem cell

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