Variant report

Variant	rs560940319
Chromosome Location	chr2:179296112-179296113
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:179295469..179297906-chr2:179298991..179302357,3	K562	blood:
2	chr2:179289800..179292691-chr2:179294901..179296812,2	MCF-7	breast:
3	chr2:179290672..179296705-chr2:179311873..179319969,11	K562	blood:
4	chr2:179290293..179297501-chr2:179307356..179318778,14	K562	blood:
5	chr2:179291608..179296531-chr2:179313533..179317372,6	MCF-7	breast:
6	chr2:179293578..179297906-chr2:179298629..179301854,4	K562	blood:
7	chr2:179293591..179296223-chr2:179303267..179306036,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000204311	Chromatin interaction
ENSG00000180228	Chromatin interaction
ENSG00000238082	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv979349	chr2:179279539-179296355	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv820287	chr2:179296051-179297014	Strong transcription Weak transcription	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv821814	chr2:179296070-179296962	Strong transcription Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv821160	chr2:179296070-179297104	Weak transcription Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv821815	chr2:179296080-179296962	Strong transcription Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv821816	chr2:179296080-179297104	Strong transcription Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv821817	chr2:179296090-179296971	Strong transcription Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv821818	chr2:179296097-179296945	Strong transcription Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv821819	chr2:179296097-179296951	Strong transcription Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv821820	chr2:179296097-179296962	Strong transcription Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179278800-179298800	Weak transcription	Small Intestine	intestine
2	chr2:179279600-179298800	Weak transcription	Colonic Mucosa	Colon
3	chr2:179279800-179299200	Weak transcription	Esophagus	oesophagus
4	chr2:179279800-179313800	Weak transcription	Stomach Mucosa	stomach
5	chr2:179280000-179296800	Weak transcription	NHLF	lung
6	chr2:179280000-179297600	Weak transcription	Hela-S3	cervix
7	chr2:179280000-179298400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:179280000-179305200	Weak transcription	Fetal Brain Male	brain
9	chr2:179280000-179310600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:179280200-179296600	Weak transcription	Fetal Kidney	kidney
11	chr2:179280200-179314600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:179290200-179312800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:179290400-179296600	Weak transcription	Psoas Muscle	Psoas
14	chr2:179290600-179296400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:179290800-179312000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:179290800-179312600	Strong transcription	Dnd41	blood
17	chr2:179291000-179300600	Strong transcription	Thymus	Thymus
18	chr2:179291000-179300800	Strong transcription	Stomach Smooth Muscle	stomach
19	chr2:179291000-179311600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:179291000-179313200	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr2:179291000-179313400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:179291000-179313600	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr2:179291200-179296400	Strong transcription	Fetal Stomach	stomach
24	chr2:179291200-179298400	Weak transcription	Fetal Intestine Small	intestine
25	chr2:179291200-179299600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:179291200-179300600	Strong transcription	Fetal Muscle Trunk	muscle
27	chr2:179291200-179300600	Strong transcription	Fetal Muscle Leg	muscle
28	chr2:179291200-179300600	Strong transcription	Left Ventricle	heart
29	chr2:179291200-179301200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:179291200-179303200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:179291200-179303200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:179291200-179303800	Strong transcription	Primary T cells from cord blood	blood
33	chr2:179291200-179306200	Strong transcription	Fetal Brain Female	brain
34	chr2:179291200-179310400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr2:179291200-179312200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:179291200-179312800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:179291200-179312800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:179291200-179312800	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:179291200-179313600	Strong transcription	Fetal Thymus	thymus
40	chr2:179291200-179313800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:179291400-179296200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr2:179291400-179300800	Strong transcription	Brain Germinal Matrix	brain
43	chr2:179291400-179303000	Strong transcription	A549	lung
44	chr2:179291400-179311400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:179291400-179312600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:179291400-179312800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:179291400-179313400	Strong transcription	HSMM	muscle
48	chr2:179291400-179313600	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr2:179291600-179296400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:179291600-179297200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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