Variant report

Variant	rs375338840
Chromosome Location	chr2:9735115-9735116
allele	-/CTAAAATTATTAACTTT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9730159..9735372-chr2:9781969..9785269,4	K562	blood:
2	chr2:9729625..9733750-chr2:9734391..9737280,4	K562	blood:
3	chr2:9732505..9736094-chr2:9769784..9772309,4	MCF-7	breast:
4	chr2:9729553..9733750-chr2:9733992..9737827,4	K562	blood:

Variant related genes	Relation type
ENSG00000134308	Chromatin interaction

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	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv214045	chr2:9734039-9742991	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9696800-9767600	Weak transcription	Gastric	stomach
2	chr2:9715000-9735200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:9719200-9747800	Weak transcription	Lung	lung
4	chr2:9723400-9736200	Strong transcription	Dnd41	blood
5	chr2:9723600-9735400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:9723800-9739800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:9726000-9739800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:9728400-9739400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:9728600-9739200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:9728800-9739200	Weak transcription	Colonic Mucosa	Colon
11	chr2:9729600-9736800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:9729800-9738200	Weak transcription	Thymus	Thymus
13	chr2:9730000-9735200	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr2:9730400-9736600	Weak transcription	HUVEC	blood vessel
15	chr2:9730400-9736800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:9730400-9738400	Weak transcription	Fetal Stomach	stomach
17	chr2:9730600-9738200	Weak transcription	Brain Germinal Matrix	brain
18	chr2:9731200-9737800	Weak transcription	Fetal Brain Female	brain
19	chr2:9731800-9738400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:9732000-9736800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:9732200-9736600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:9732200-9736800	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:9732200-9736800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:9732200-9738200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:9732200-9738200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:9732200-9738200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:9732200-9738200	Weak transcription	Fetal Thymus	thymus
28	chr2:9732200-9738400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:9732200-9738400	Weak transcription	Primary B cells from cord blood	blood
30	chr2:9732200-9738400	Weak transcription	Fetal Kidney	kidney
31	chr2:9732200-9739000	Weak transcription	Liver	Liver
32	chr2:9732200-9739400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:9732200-9739400	Weak transcription	Psoas Muscle	Psoas
34	chr2:9732400-9736800	Weak transcription	Fetal Intestine Large	intestine
35	chr2:9732400-9738400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:9732400-9738400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:9732400-9738400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr2:9732400-9747600	Weak transcription	Placenta	Placenta
39	chr2:9732600-9738800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:9732800-9737000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:9732800-9738200	Weak transcription	Fetal Lung	lung
42	chr2:9733000-9736000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:9733000-9736400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:9733400-9736400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr2:9733400-9737200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:9733400-9738200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:9733600-9735400	Enhancers	Adipose Nuclei	Adipose
48	chr2:9733600-9735800	Enhancers	Primary T cells fromperipheralblood	blood
49	chr2:9733600-9735800	Enhancers	Ovary	ovary
50	chr2:9733600-9736200	Enhancers	HSMMtube	muscle

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