Variant report

Variant	rs534971
Chromosome Location	chr6:13367633-13367634
allele	A/G
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: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs542978	1.00[YRI][hapmap];1.00[AFR][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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13355600-13383400	Weak transcription	A549	lung
2	chr6:13356200-13371800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr6:13356200-13372000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:13356200-13373600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:13356200-13378200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:13356400-13368000	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:13358000-13371800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:13358200-13368200	Weak transcription	HMEC	breast
9	chr6:13360800-13370800	Weak transcription	HepG2	liver
10	chr6:13361600-13378200	Weak transcription	Fetal Thymus	thymus
11	chr6:13362400-13368600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr6:13363400-13368600	Weak transcription	HSMM	muscle
13	chr6:13363600-13368200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:13365000-13377800	Weak transcription	Primary B cells from cord blood	blood
15	chr6:13365400-13379800	Weak transcription	Primary T cells from cord blood	blood
16	chr6:13365600-13369000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:13365600-13378000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr6:13365800-13368000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr6:13365800-13368400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr6:13365800-13373800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr6:13365800-13373800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:13365800-13373800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr6:13365800-13377600	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr6:13365800-13378800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr6:13365800-13378800	Weak transcription	Gastric	stomach
26	chr6:13365800-13379400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr6:13365800-13379600	Weak transcription	Brain Germinal Matrix	brain
28	chr6:13365800-13380600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr6:13365800-13385400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:13366000-13368000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr6:13366000-13368200	Weak transcription	Aorta	Aorta
32	chr6:13366000-13368200	Weak transcription	Esophagus	oesophagus
33	chr6:13366000-13372200	Weak transcription	Fetal Stomach	stomach
34	chr6:13366000-13372800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:13366000-13374600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:13366000-13378200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:13366000-13378200	Weak transcription	Colonic Mucosa	Colon
38	chr6:13366000-13378600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr6:13366000-13380600	Weak transcription	Ovary	ovary
40	chr6:13366000-13382800	Weak transcription	Liver	Liver
41	chr6:13366000-13386800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:13366600-13372800	Weak transcription	GM12878-XiMat	blood
43	chr6:13367400-13368200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr6:13367400-13368200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:13367400-13368200	Enhancers	Fetal Lung	lung
46	chr6:13367400-13368400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr6:13367400-13368400	Enhancers	Fetal Brain Female	brain
48	chr6:13367400-13368600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:13367400-13368600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:13367400-13368800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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