Variant report

Variant	rs1385067
Chromosome Location	chr6:134294337-134294338
allele	C/G
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:134293580..134296132-chr6:134309183..134311272,2	K562	blood:
2	chr6:134294186..134294797-chr6:134386578..134387105,2	MCF-7	breast:
3	chr6:134294288..134296842-chr6:134382969..134385826,3	K562	blood:
4	chr6:134293697..134297795-chr6:134300055..134303954,5	K562	blood:
5	chr6:134294242..134295403-chr6:134384706..134385776,10	MCF-7	breast:
6	chr6:134294315..134295352-chr6:134384685..134386037,5	MCF-7	breast:
7	chr6:134294249..134295170-chr6:134417821..134418453,2	K562	blood:
8	chr6:134275524..134278363-chr6:134292927..134296382,4	K562	blood:
9	chr6:134294218..134295131-chr6:134418011..134418691,3	MCF-7	breast:
10	chr6:134292321..134294541-chr6:134307112..134309722,2	K562	blood:
11	chr6:134293960..134294724-chr6:134431907..134432817,2	K562	blood:
12	chr6:134286093..134287998-chr6:134291720..134294657,2	K562	blood:
13	chr6:134272705..134274666-chr6:134292169..134296187,3	MCF-7	breast:
14	chr6:134293943..134295306-chr6:134384156..134385662,6	K562	blood:
15	chr6:134294012..134296543-chr6:134396397..134398405,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000028839	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1980503	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2220135	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs228867	0.89[EUR][1000 genomes]
rs2327437	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6919121	0.84[ASN][1000 genomes]
rs9321423	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9385675	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs9399083	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9402554	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34122	chr6:134089019-134378252	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134276200-134299000	Weak transcription	Fetal Intestine Small	intestine
2	chr6:134276200-134303000	Weak transcription	HSMMtube	muscle
3	chr6:134276600-134302800	Weak transcription	Fetal Kidney	kidney
4	chr6:134276600-134314000	Weak transcription	Thymus	Thymus
5	chr6:134278000-134303600	Weak transcription	Dnd41	blood
6	chr6:134279400-134298800	Weak transcription	Psoas Muscle	Psoas
7	chr6:134280400-134304200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:134280600-134312200	Weak transcription	Lung	lung
9	chr6:134281000-134294400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:134281400-134298800	Weak transcription	Ovary	ovary
11	chr6:134282000-134298800	Weak transcription	Gastric	stomach
12	chr6:134282600-134302000	Weak transcription	Placenta	Placenta
13	chr6:134283200-134305600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:134285000-134316600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:134286800-134299000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr6:134286800-134304200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr6:134288200-134294400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr6:134288200-134298800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr6:134288200-134311800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr6:134288400-134306600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr6:134288800-134299000	Weak transcription	Brain Angular Gyrus	brain
22	chr6:134289200-134294400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:134289200-134298800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:134289400-134298800	Weak transcription	Hela-S3	cervix
25	chr6:134289400-134298800	Weak transcription	NHEK	skin
26	chr6:134289400-134299400	Weak transcription	HUVEC	blood vessel
27	chr6:134289600-134299000	Weak transcription	HMEC	breast
28	chr6:134289800-134304200	Weak transcription	Fetal Stomach	stomach
29	chr6:134290000-134298800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:134290000-134299200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:134290000-134304200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:134290200-134302400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr6:134290800-134295000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:134290800-134298800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr6:134290800-134316400	Weak transcription	Esophagus	oesophagus
36	chr6:134291000-134294400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr6:134291000-134299000	Weak transcription	Aorta	Aorta
38	chr6:134291200-134298800	Weak transcription	Brain Anterior Caudate	brain
39	chr6:134291200-134302400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:134291400-134294400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr6:134291600-134299200	Weak transcription	NHLF	lung
42	chr6:134291800-134304000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr6:134292400-134295600	Enhancers	Fetal Brain Male	brain
44	chr6:134292400-134300600	Weak transcription	Primary B cells from cord blood	blood
45	chr6:134292600-134294400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr6:134292600-134303000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr6:134292600-134304400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:134293000-134294400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:134293000-134294600	Enhancers	Liver	Liver
50	chr6:134293000-134295000	Enhancers	Osteobl	bone

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