Variant report

Variant	rs1439816
Chromosome Location	chr2:190444630-190444631
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190305927..190307629-chr2:190443635..190445286,2	K562	blood:
2	chr2:190443338..190447714-chr2:190524367..190527732,5	K562	blood:

Variant related genes	Relation type
ENSG00000115368	Chromatin interaction
ENSG00000138381	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10931426	0.94[CEU][hapmap]
rs1123110	0.81[JPT][hapmap];0.89[LWK][hapmap]
rs1439814	0.85[LWK][hapmap]
rs4287798	0.89[AFR][1000 genomes]
rs6727543	0.93[CEU][hapmap]
rs7563737	0.87[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190434200-190444800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:190436000-190444800	Weak transcription	HSMM	muscle
3	chr2:190440000-190445200	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr2:190440200-190445000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:190441600-190446400	Active TSS	Rectal Smooth Muscle	rectum
6	chr2:190441800-190446000	Active TSS	Stomach Smooth Muscle	stomach
7	chr2:190442200-190444800	Weak transcription	Spleen	Spleen
8	chr2:190442200-190445000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:190442200-190446400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:190442200-190446400	Active TSS	Aorta	Aorta
11	chr2:190442200-190446600	Active TSS	Right Atrium	heart
12	chr2:190442600-190444800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:190442600-190445800	Active TSS	Fetal Intestine Small	intestine
14	chr2:190443200-190445000	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr2:190443200-190446000	Active TSS	Fetal Muscle Leg	muscle
16	chr2:190443200-190446200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:190443200-190446200	Active TSS	Duodenum Mucosa	Duodenum
18	chr2:190443200-190446400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:190443200-190446600	Active TSS	Brain Anterior Caudate	brain
20	chr2:190443200-190446600	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr2:190443400-190445400	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr2:190443400-190445400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:190443600-190446200	Active TSS	Fetal Intestine Large	intestine
24	chr2:190443600-190446400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:190443600-190446400	Active TSS	Ovary	ovary
26	chr2:190443800-190445600	ZNF genes & repeats	Fetal Brain Male	brain
27	chr2:190443800-190446000	Active TSS	Placenta	Placenta
28	chr2:190444000-190445200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:190444000-190446400	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr2:190444000-190446600	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr2:190444200-190444800	Flanking Active TSS	Fetal Kidney	kidney
32	chr2:190444200-190444800	Transcr. at gene 5' and 3'	Fetal Lung	lung
33	chr2:190444200-190445000	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr2:190444200-190445000	Flanking Active TSS	Colon Smooth Muscle	Colon
35	chr2:190444200-190445000	Transcr. at gene 5' and 3'	K562	blood
36	chr2:190444200-190445200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr2:190444200-190445200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
38	chr2:190444200-190445400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr2:190444200-190445800	Active TSS	Brain Hippocampus Middle	brain
40	chr2:190444200-190446200	Active TSS	Brain Angular Gyrus	brain
41	chr2:190444200-190446200	Active TSS	Fetal Stomach	stomach
42	chr2:190444200-190446600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr2:190444400-190444800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:190444400-190444800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr2:190444400-190444800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr2:190444400-190444800	Active TSS	Primary T cells fromperipheralblood	blood
47	chr2:190444400-190444800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr2:190444400-190444800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr2:190444400-190444800	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr2:190444400-190444800	Active TSS	Fetal Thymus	thymus

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