Variant report

Variant	rs73515048
Chromosome Location	chr11:68165065-68165066
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:68162958..68165501-chr11:68179267..68181226,2	MCF-7	breast:
2	chr11:68159157..68161906-chr11:68164331..68167262,3	K562	blood:
3	chr11:68150498..68154117-chr11:68165017..68167539,3	MCF-7	breast:
4	chr11:68163700..68165286-chr11:68169965..68171469,2	MCF-7	breast:
5	chr11:68155936..68158633-chr11:68163995..68166705,2	K562	blood:
6	chr11:68159157..68163122-chr11:68164124..68167262,3	K562	blood:

Variant related genes	Relation type
ENSG00000162337	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2509524	1.00[EUR][1000 genomes]
rs4930231	1.00[EUR][1000 genomes]
rs4930232	1.00[EUR][1000 genomes]
rs542995	1.00[EUR][1000 genomes]
rs569430	1.00[EUR][1000 genomes]
rs570947	1.00[EUR][1000 genomes]
rs588578	1.00[EUR][1000 genomes]
rs630456	1.00[EUR][1000 genomes]
rs7107592	1.00[EUR][1000 genomes]
rs73515053	1.00[EUR][1000 genomes]
rs73516804	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	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	esv3347272	chr11:67969427-68218997	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv897857	chr11:68056770-68231240	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv897859	chr11:68102000-68231240	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1047532	chr11:68103330-68239242	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv541082	chr11:68103330-68239242	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1039671	chr11:68120571-68206630	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking 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	16 gene(s)	inside rSNPs	diseases
11	nsv897861	chr11:68129606-68196830	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv897862	chr11:68129606-68236389	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv469965	chr11:68140781-68217420	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv555285	chr11:68144283-68231240	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers 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	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68142600-68179000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:68147400-68181600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:68148600-68165600	Weak transcription	Small Intestine	intestine
4	chr11:68148600-68196800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:68149000-68165200	Weak transcription	Psoas Muscle	Psoas
6	chr11:68149200-68174000	Weak transcription	Primary B cells from cord blood	blood
7	chr11:68149400-68167000	Weak transcription	Brain Anterior Caudate	brain
8	chr11:68149600-68180400	Weak transcription	NHLF	lung
9	chr11:68150200-68166800	Weak transcription	Brain Substantia Nigra	brain
10	chr11:68151800-68166800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:68152200-68166000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:68152400-68165800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:68153200-68165200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:68154200-68165200	Weak transcription	Placenta	Placenta
15	chr11:68154200-68165400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:68154400-68165600	Strong transcription	Fetal Intestine Large	intestine
17	chr11:68155400-68165600	Weak transcription	Stomach Mucosa	stomach
18	chr11:68156400-68165200	Strong transcription	Fetal Intestine Small	intestine
19	chr11:68156400-68166800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:68157000-68171000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:68157200-68165200	Weak transcription	Fetal Brain Male	brain
22	chr11:68157200-68166800	Weak transcription	Fetal Kidney	kidney
23	chr11:68157200-68174000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:68157200-68196600	Weak transcription	NH-A	brain
25	chr11:68157400-68165600	Weak transcription	Esophagus	oesophagus
26	chr11:68157400-68170800	Weak transcription	HMEC	breast
27	chr11:68157600-68165800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:68157600-68167000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:68157600-68167000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:68157600-68171000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:68157600-68180400	Weak transcription	Osteobl	bone
32	chr11:68157800-68166600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:68157800-68169600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr11:68157800-68169600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:68158000-68165600	Weak transcription	GM12878-XiMat	blood
36	chr11:68158000-68165600	Weak transcription	HUVEC	blood vessel
37	chr11:68158000-68165600	Weak transcription	K562	blood
38	chr11:68158000-68166800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:68158000-68170800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr11:68158000-68173600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr11:68158200-68166600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:68158200-68169800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:68158600-68170800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:68159200-68177400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:68159400-68165400	Weak transcription	Spleen	Spleen
46	chr11:68159400-68169000	Weak transcription	NHEK	skin
47	chr11:68159400-68171000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr11:68159600-68165600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:68159600-68169600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:68159600-68170800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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