Variant report

Variant	rs12527693
Chromosome Location	chr6:144408770-144408771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144278626..144280839-chr6:144407684..144410223,2	K562	blood:
2	chr6:144382541..144385412-chr6:144408158..144411278,3	K562	blood:
3	chr6:144408749..144411162-chr6:144425038..144426692,2	K562	blood:
4	chr6:144407402..144409658-chr6:144409973..144413470,4	K562	blood:
5	chr6:144383834..144386058-chr6:144408158..144410641,2	K562	blood:

Variant related genes	Relation type
ENSG00000118495	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13202317	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs4379308	1.00[AFR][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	nsv886738	chr6:144387698-144428387	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144386400-144408800	Weak transcription	Right Ventricle	heart
2	chr6:144396600-144414800	Weak transcription	Gastric	stomach
3	chr6:144399400-144413400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:144399400-144414600	Weak transcription	Primary T cells from cord blood	blood
5	chr6:144399600-144414800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:144399800-144414800	Weak transcription	Ovary	ovary
7	chr6:144403200-144414800	Weak transcription	Brain Hippocampus Middle	brain
8	chr6:144404000-144414800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr6:144404200-144414600	Weak transcription	Esophagus	oesophagus
10	chr6:144404200-144414800	Weak transcription	Lung	lung
11	chr6:144404200-144415000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:144404200-144415000	Weak transcription	Thymus	Thymus
13	chr6:144404400-144414000	Weak transcription	Fetal Brain Female	brain
14	chr6:144404600-144414600	Weak transcription	Brain Germinal Matrix	brain
15	chr6:144404600-144414800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:144404800-144409200	Weak transcription	GM12878-XiMat	blood
17	chr6:144404800-144414400	Weak transcription	Liver	Liver
18	chr6:144404800-144414800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr6:144404800-144415200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:144404800-144415200	Weak transcription	Colon Smooth Muscle	Colon
21	chr6:144405000-144414800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr6:144405000-144414800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr6:144405000-144415600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr6:144405200-144408800	Weak transcription	Left Ventricle	heart
25	chr6:144405200-144409000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr6:144405200-144414600	Weak transcription	Fetal Muscle Leg	muscle
27	chr6:144405200-144414800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:144405400-144414800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr6:144405400-144415000	Weak transcription	Primary B cells from cord blood	blood
30	chr6:144405400-144415000	Weak transcription	Fetal Kidney	kidney
31	chr6:144405400-144415200	Weak transcription	Placenta	Placenta
32	chr6:144405600-144415200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr6:144405800-144415000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr6:144406000-144414600	Weak transcription	Fetal Thymus	thymus
35	chr6:144406000-144414600	Weak transcription	Pancreas	Pancrea
36	chr6:144406000-144416000	Weak transcription	Aorta	Aorta
37	chr6:144406200-144414400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr6:144406600-144408800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:144407000-144408800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:144407200-144408800	Weak transcription	Adipose Nuclei	Adipose
41	chr6:144407400-144414600	Weak transcription	Fetal Lung	lung
42	chr6:144407600-144414600	Weak transcription	Fetal Intestine Small	intestine
43	chr6:144407600-144414600	Weak transcription	HepG2	liver
44	chr6:144407600-144415200	Weak transcription	Brain Anterior Caudate	brain
45	chr6:144407600-144415200	Weak transcription	Fetal Stomach	stomach
46	chr6:144407600-144415400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:144407800-144414600	Weak transcription	NHEK	skin
48	chr6:144407800-144414800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:144407800-144414800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr6:144407800-144414800	Weak transcription	HSMM	muscle

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