Variant report

Variant	rs1140251
Chromosome Location	chr6:13363817-13363818
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:13353711..13355393-chr6:13361734..13364250,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2496160	0.82[EUR][1000 genomes]
rs2496161	0.82[EUR][1000 genomes]
rs2496162	0.85[AMR][1000 genomes];0.80[EUR][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	chr6:13350800-13364600	Weak transcription	Aorta	Aorta
2	chr6:13355400-13364000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr6:13355600-13383400	Weak transcription	A549	lung
4	chr6:13356000-13364400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr6:13356000-13364400	Weak transcription	Stomach Mucosa	stomach
6	chr6:13356200-13364000	Weak transcription	Esophagus	oesophagus
7	chr6:13356200-13364400	Weak transcription	Pancreas	Pancrea
8	chr6:13356200-13364600	Weak transcription	Lung	lung
9	chr6:13356200-13364800	Weak transcription	Colonic Mucosa	Colon
10	chr6:13356200-13365000	Weak transcription	Gastric	stomach
11	chr6:13356200-13367600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:13356200-13371800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr6:13356200-13372000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr6:13356200-13373600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:13356200-13378200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:13356400-13365000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:13356400-13368000	Weak transcription	Colon Smooth Muscle	Colon
18	chr6:13357200-13364600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr6:13358000-13364400	Weak transcription	Brain Germinal Matrix	brain
20	chr6:13358000-13364400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr6:13358000-13364600	Weak transcription	Primary T cells from cord blood	blood
22	chr6:13358000-13364600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:13358000-13364800	Weak transcription	Dnd41	blood
24	chr6:13358000-13371800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:13358200-13364400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:13358200-13364600	Weak transcription	Thymus	Thymus
27	chr6:13358200-13367600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr6:13358200-13368200	Weak transcription	HMEC	breast
29	chr6:13358400-13367600	Weak transcription	NH-A	brain
30	chr6:13358800-13365000	Weak transcription	Fetal Muscle Leg	muscle
31	chr6:13358800-13365800	Strong transcription	Stomach Smooth Muscle	stomach
32	chr6:13358800-13367400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr6:13359000-13364600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr6:13359000-13367600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr6:13359200-13364600	Weak transcription	Brain Anterior Caudate	brain
36	chr6:13359200-13365000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:13359200-13367400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr6:13359200-13367600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr6:13359200-13367600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:13359200-13367600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:13359400-13364600	Weak transcription	Brain Hippocampus Middle	brain
42	chr6:13359400-13364800	Weak transcription	Brain Substantia Nigra	brain
43	chr6:13359400-13367400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:13359400-13367600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:13359600-13364400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr6:13359800-13364400	Weak transcription	Fetal Stomach	stomach
47	chr6:13359800-13364600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr6:13360600-13365000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr6:13360800-13364800	Enhancers	Right Atrium	heart
50	chr6:13360800-13370800	Weak transcription	HepG2	liver

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