Variant report

Variant	rs60272175
Chromosome Location	chr6:13367246-13367247
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:13366967..13368936-chr6:13574770..13576308,2	MCF-7	breast:
2	chr6:13366611..13368795-chr6:13370158..13372388,2	K562	blood:

Variant related genes	Relation type
ENSG00000124523	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs61510457	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61533038	0.83[AMR][1000 genomes]
rs6933761	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73723286	0.82[AFR][1000 genomes]
rs73723287	0.83[AMR][1000 genomes]
rs73723289	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers 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 target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13355600-13383400	Weak transcription	A549	lung
2	chr6:13356200-13367600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:13356200-13371800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:13356200-13372000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:13356200-13373600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:13356200-13378200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:13356400-13368000	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:13358000-13371800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:13358200-13367600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:13358200-13368200	Weak transcription	HMEC	breast
11	chr6:13358400-13367600	Weak transcription	NH-A	brain
12	chr6:13358800-13367400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr6:13359000-13367600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr6:13359200-13367400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:13359200-13367600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:13359200-13367600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:13359200-13367600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:13359400-13367400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:13359400-13367600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:13360800-13370800	Weak transcription	HepG2	liver
21	chr6:13361400-13367400	Weak transcription	HUVEC	blood vessel
22	chr6:13361600-13378200	Weak transcription	Fetal Thymus	thymus
23	chr6:13361800-13367600	Weak transcription	Psoas Muscle	Psoas
24	chr6:13362400-13368600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr6:13363200-13367600	Weak transcription	Placenta	Placenta
26	chr6:13363400-13368600	Weak transcription	HSMM	muscle
27	chr6:13363600-13368200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:13364400-13367400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:13364800-13367600	Weak transcription	Right Atrium	heart
30	chr6:13364800-13367600	Weak transcription	Stomach Mucosa	stomach
31	chr6:13365000-13377800	Weak transcription	Primary B cells from cord blood	blood
32	chr6:13365200-13367400	Weak transcription	Fetal Heart	heart
33	chr6:13365200-13367600	Weak transcription	Pancreas	Pancrea
34	chr6:13365400-13367400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:13365400-13367600	Weak transcription	HSMMtube	muscle
36	chr6:13365400-13379800	Weak transcription	Primary T cells from cord blood	blood
37	chr6:13365600-13367400	Weak transcription	Brain Hippocampus Middle	brain
38	chr6:13365600-13367400	Weak transcription	Fetal Lung	lung
39	chr6:13365600-13367600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:13365600-13367600	Weak transcription	Fetal Muscle Leg	muscle
41	chr6:13365600-13369000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:13365600-13378000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr6:13365800-13367400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr6:13365800-13367400	Weak transcription	Brain Angular Gyrus	brain
45	chr6:13365800-13367400	Weak transcription	Brain Anterior Caudate	brain
46	chr6:13365800-13367400	Weak transcription	Brain Substantia Nigra	brain
47	chr6:13365800-13367400	Weak transcription	Fetal Brain Female	brain
48	chr6:13365800-13367400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr6:13365800-13367600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:13365800-13367600	Weak transcription	Brain Cingulate Gyrus	brain

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