Variant report

Variant	rs559205949
Chromosome Location	chr2:86016726-86016727
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86015229..86018634-chr2:86021632..86024903,4	K562	blood:
2	chr2:86007953..86010891-chr2:86015873..86017457,2	MCF-7	breast:
3	chr2:85997689..85999503-chr2:86015915..86018374,2	MCF-7	breast:
4	chr2:86011226..86014071-chr2:86015355..86018702,3	K562	blood:
5	chr2:86015379..86018037-chr2:86020333..86023146,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168874	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv979290	chr2:86015956-86029004	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86001400-86023000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:86001600-86020000	Weak transcription	Fetal Brain Female	brain
3	chr2:86001600-86023000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:86004800-86017200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:86005400-86019200	Weak transcription	HUVEC	blood vessel
6	chr2:86006600-86019000	Weak transcription	Esophagus	oesophagus
7	chr2:86006800-86020000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:86007000-86019200	Weak transcription	Hela-S3	cervix
9	chr2:86012000-86019000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:86013200-86017200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:86013200-86017400	Weak transcription	Brain Germinal Matrix	brain
12	chr2:86013200-86023000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:86013400-86017400	Weak transcription	NH-A	brain
14	chr2:86013400-86019000	Weak transcription	Psoas Muscle	Psoas
15	chr2:86013600-86017400	Strong transcription	Adipose Nuclei	Adipose
16	chr2:86013600-86017800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:86013600-86019000	Weak transcription	NHDF-Ad	bronchial
18	chr2:86013600-86023200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:86013800-86016800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:86013800-86019200	Weak transcription	HSMMtube	muscle
21	chr2:86014000-86017000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:86014000-86017800	Strong transcription	Fetal Lung	lung
23	chr2:86014000-86019000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:86014000-86019600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:86014200-86017400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:86014200-86023200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:86014400-86018200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:86014800-86016800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:86015000-86019600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:86015200-86017200	Strong transcription	Lung	lung
31	chr2:86015200-86020000	Weak transcription	Liver	Liver
32	chr2:86015200-86020000	Weak transcription	Colonic Mucosa	Colon
33	chr2:86015400-86016800	Weak transcription	Fetal Brain Male	brain
34	chr2:86015400-86017400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:86015400-86018800	Weak transcription	Colon Smooth Muscle	Colon
36	chr2:86015400-86024800	Enhancers	Brain Angular Gyrus	brain
37	chr2:86015600-86017400	Weak transcription	Ovary	ovary
38	chr2:86015600-86020400	Genic enhancers	HSMM	muscle
39	chr2:86015800-86016800	Genic enhancers	NHLF	lung
40	chr2:86015800-86017200	Strong transcription	Aorta	Aorta
41	chr2:86016000-86016800	Genic enhancers	Brain Anterior Caudate	brain
42	chr2:86016000-86019600	Weak transcription	Gastric	stomach
43	chr2:86016000-86026200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr2:86016200-86016800	Strong transcription	Spleen	Spleen
45	chr2:86016200-86017200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:86016200-86017200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr2:86016200-86017200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:86016200-86017400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:86016200-86018000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:86016200-86018800	Weak transcription	Left Ventricle	heart

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