Variant report

Variant	rs80319570
Chromosome Location	chr2:172783100-172783101
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172780580..172784087-chr2:172788193..172790516,4	K562	blood:
2	chr2:172778951..172781119-chr2:172782049..172784820,2	MCF-7	breast:
3	chr2:172777989..172784973-chr2:172962042..172968003,11	K562	blood:
4	chr2:172770788..172773001-chr2:172780545..172783443,2	K562	blood:
5	chr2:172749385..172752362-chr2:172779098..172783248,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236651	Chromatin interaction
ENSG00000115844	Chromatin interaction
ENSG00000115840	Chromatin interaction
ENSG00000128708	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172779600-172784600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:172779800-172785000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:172779800-172787200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:172779800-172828400	Weak transcription	Aorta	Aorta
5	chr2:172780000-172789000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:172780000-172791000	Weak transcription	Esophagus	oesophagus
7	chr2:172780000-172812800	Weak transcription	Lung	lung
8	chr2:172780000-172829000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:172780200-172786200	Weak transcription	Ovary	ovary
10	chr2:172780200-172786800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:172780200-172786800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:172780200-172787600	Weak transcription	Pancreas	Pancrea
13	chr2:172780200-172789800	Weak transcription	Colonic Mucosa	Colon
14	chr2:172780200-172792800	Weak transcription	Spleen	Spleen
15	chr2:172780200-172795000	Weak transcription	Psoas Muscle	Psoas
16	chr2:172780200-172795400	Weak transcription	Gastric	stomach
17	chr2:172780200-172822200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:172780200-172840400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:172780400-172783200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:172780400-172784800	Weak transcription	Fetal Brain Female	brain
21	chr2:172780400-172785400	Weak transcription	Brain Substantia Nigra	brain
22	chr2:172780400-172787000	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:172780400-172787200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:172780400-172796600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:172780400-172820600	Weak transcription	Brain Angular Gyrus	brain
26	chr2:172780400-172848800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:172780600-172783200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:172780600-172783200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:172780600-172783200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:172780600-172783200	Weak transcription	Osteobl	bone
31	chr2:172780600-172783400	Weak transcription	HMEC	breast
32	chr2:172780600-172784000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:172780600-172786800	Weak transcription	Thymus	Thymus
34	chr2:172780600-172787200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:172780600-172788400	Weak transcription	NH-A	brain
36	chr2:172780600-172795200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr2:172780600-172811200	Weak transcription	HSMMtube	muscle
38	chr2:172780600-172811200	Weak transcription	NHEK	skin
39	chr2:172780600-172820600	Weak transcription	Brain Anterior Caudate	brain
40	chr2:172780600-172822200	Weak transcription	Liver	Liver
41	chr2:172780600-172822200	Weak transcription	Fetal Kidney	kidney
42	chr2:172780600-172847400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr2:172780600-172854200	Weak transcription	Small Intestine	intestine
44	chr2:172780800-172783400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:172780800-172783600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:172781000-172783200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr2:172781000-172783600	Weak transcription	Left Ventricle	heart
48	chr2:172781000-172784400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr2:172781000-172784600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:172781000-172784800	Weak transcription	Fetal Brain Male	brain

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