Variant report

Variant	rs192400709
Chromosome Location	chr2:85966910-85966911
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85930415..85932618-chr2:85965102..85967438,2	K562	blood:
2	chr2:85960025..85963728-chr2:85966554..85970726,5	MCF-7	breast:
3	chr2:85964549..85967309-chr2:85973437..85975079,2	K562	blood:
4	chr2:85965048..85966910-chr2:85967176..85969800,2	MCF-7	breast:
5	chr2:85957921..85961748-chr2:85964446..85969197,5	MCF-7	breast:

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1012593	chr2:85966323-85997189	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85941200-85967400	Weak transcription	Esophagus	oesophagus
2	chr2:85959200-85968000	Weak transcription	Fetal Heart	heart
3	chr2:85960800-85968200	Weak transcription	Right Ventricle	heart
4	chr2:85961400-85967200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:85961600-85968000	Weak transcription	Left Ventricle	heart
6	chr2:85962400-85968600	Enhancers	Fetal Lung	lung
7	chr2:85963000-85967200	Weak transcription	Stomach Mucosa	stomach
8	chr2:85963200-85968000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:85963200-85968400	Weak transcription	Gastric	stomach
10	chr2:85963400-85969200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:85964200-85968800	Enhancers	Brain Substantia Nigra	brain
12	chr2:85964400-85968000	Weak transcription	Hela-S3	cervix
13	chr2:85964400-85968200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:85964400-85968200	Weak transcription	Colonic Mucosa	Colon
15	chr2:85964400-85968200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:85964400-85968600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:85964800-85968600	Enhancers	Brain Cingulate Gyrus	brain
18	chr2:85965000-85967400	Weak transcription	Liver	Liver
19	chr2:85965000-85973400	Enhancers	Fetal Muscle Leg	muscle
20	chr2:85965200-85968000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr2:85965200-85968200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:85965400-85967400	Weak transcription	Aorta	Aorta
23	chr2:85965400-85968200	Weak transcription	HUVEC	blood vessel
24	chr2:85965400-85968400	Weak transcription	Osteobl	bone
25	chr2:85965600-85967000	Weak transcription	Brain Anterior Caudate	brain
26	chr2:85965600-85967200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:85965600-85967400	Weak transcription	Adipose Nuclei	Adipose
28	chr2:85965600-85967800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:85965600-85967800	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:85965600-85968000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:85965600-85968000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:85965800-85967400	Weak transcription	Ovary	ovary
33	chr2:85965800-85968000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:85965800-85968000	Weak transcription	HSMM	muscle
35	chr2:85966000-85967000	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:85966000-85967000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:85966000-85967200	Weak transcription	Brain Angular Gyrus	brain
38	chr2:85966000-85967200	Weak transcription	Psoas Muscle	Psoas
39	chr2:85966000-85967200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr2:85966000-85968000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:85966000-85968000	Weak transcription	NHLF	lung
42	chr2:85966200-85967000	Weak transcription	A549	lung
43	chr2:85966200-85967400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:85966200-85968000	Weak transcription	NHDF-Ad	bronchial
45	chr2:85966200-85968200	Weak transcription	HSMMtube	muscle
46	chr2:85966200-85968400	Weak transcription	Spleen	Spleen
47	chr2:85966400-85967400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:85966400-85968200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:85966400-85968200	Weak transcription	Right Atrium	heart
50	chr2:85966600-85967400	Weak transcription	Brain Germinal Matrix	brain

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