Variant report

Variant	rs35623329
Chromosome Location	chr2:190443445-190443446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190415379..190418461-chr2:190441095..190444041,3	K562	blood:
2	chr2:190441665..190443779-chr6:27103108..27105196,2	K562	blood:
3	chr2:190443338..190447714-chr2:190524367..190527732,5	K562	blood:

Variant related genes	Relation type
ENSG00000138381	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1123109	1.00[AFR][1000 genomes]
rs11568351	1.00[AFR][1000 genomes]
rs13008848	1.00[AFR][1000 genomes]

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	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
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190424800-190444400	Weak transcription	Brain Substantia Nigra	brain
2	chr2:190426600-190444200	Weak transcription	Brain Angular Gyrus	brain
3	chr2:190428400-190443800	Weak transcription	Brain Germinal Matrix	brain
4	chr2:190429000-190444400	Weak transcription	Thymus	Thymus
5	chr2:190430400-190444600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:190431200-190444400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:190432000-190444600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:190434200-190444800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:190434400-190444400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:190435800-190444400	Weak transcription	NHLF	lung
11	chr2:190436000-190444800	Weak transcription	HSMM	muscle
12	chr2:190438600-190444200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:190438800-190444400	Weak transcription	Fetal Thymus	thymus
14	chr2:190439200-190444400	Flanking Active TSS	Liver	Liver
15	chr2:190439600-190444600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:190439600-190444600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr2:190440000-190444400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:190440000-190444400	Weak transcription	Lung	lung
19	chr2:190440000-190445200	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr2:190440200-190444200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr2:190440200-190444600	Weak transcription	HSMMtube	muscle
22	chr2:190440200-190445000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:190440600-190444400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:190440600-190444400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr2:190441000-190444600	Weak transcription	HUVEC	blood vessel
26	chr2:190441200-190443600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr2:190441200-190443600	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
28	chr2:190441400-190444600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:190441400-190444600	Transcr. at gene 5' and 3'	Dnd41	blood
30	chr2:190441600-190443600	Transcr. at gene 5' and 3'	Fetal Lung	lung
31	chr2:190441600-190446400	Active TSS	Rectal Smooth Muscle	rectum
32	chr2:190441800-190443600	Transcr. at gene 5' and 3'	Ovary	ovary
33	chr2:190441800-190443800	Transcr. at gene 5' and 3'	Placenta	Placenta
34	chr2:190441800-190444000	Enhancers	Fetal Heart	heart
35	chr2:190441800-190444400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr2:190441800-190446000	Active TSS	Stomach Smooth Muscle	stomach
37	chr2:190442000-190444400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:190442000-190444400	Weak transcription	Colonic Mucosa	Colon
39	chr2:190442200-190443800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr2:190442200-190444200	Weak transcription	HepG2	liver
41	chr2:190442200-190444400	Weak transcription	Gastric	stomach
42	chr2:190442200-190444600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr2:190442200-190444600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:190442200-190444800	Weak transcription	Spleen	Spleen
45	chr2:190442200-190445000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:190442200-190446400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:190442200-190446400	Active TSS	Aorta	Aorta
48	chr2:190442200-190446600	Active TSS	Right Atrium	heart
49	chr2:190442600-190444000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr2:190442600-190444200	Weak transcription	Brain Hippocampus Middle	brain

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