Variant report

Variant	rs996425
Chromosome Location	chr2:190441454-190441455
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190430886..190434055-chr2:190440352..190443388,4	K562	blood:
2	chr2:190415379..190418461-chr2:190441095..190444041,3	K562	blood:
3	chr2:190326973..190329897-chr2:190440018..190441617,2	K562	blood:
4	chr2:190341340..190343913-chr2:190441363..190443168,2	K562	blood:
5	chr2:190438086..190442028-chr2:190445143..190449183,3	MCF-7	breast:
6	chr2:190330753..190332897-chr2:190440426..190442932,2	K562	blood:

Variant related genes	Relation type
ENSG00000115368	Chromatin interaction
ENSG00000138449	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11689103	0.89[AMR][1000 genomes]
rs11690401	0.89[AMR][1000 genomes]
rs11884632	0.86[ASN][1000 genomes]
rs1439812	0.89[AMR][1000 genomes]
rs34206448	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs994227	0.81[AMR][1000 genomes]
rs996426	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190424800-190441800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:190424800-190444400	Weak transcription	Brain Substantia Nigra	brain
3	chr2:190426600-190444200	Weak transcription	Brain Angular Gyrus	brain
4	chr2:190428400-190443800	Weak transcription	Brain Germinal Matrix	brain
5	chr2:190429000-190441600	Weak transcription	Fetal Brain Female	brain
6	chr2:190429000-190442000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:190429000-190444400	Weak transcription	Thymus	Thymus
8	chr2:190429800-190441800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:190430200-190443400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:190430400-190444600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:190431200-190444400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:190432000-190444600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:190434200-190444800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:190434400-190441800	Weak transcription	Fetal Stomach	stomach
15	chr2:190434400-190442000	Weak transcription	Brain Anterior Caudate	brain
16	chr2:190434400-190444400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:190435400-190441600	Strong transcription	K562	blood
18	chr2:190435800-190441600	Weak transcription	Right Ventricle	heart
19	chr2:190435800-190443000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:190435800-190444400	Weak transcription	NHLF	lung
21	chr2:190436000-190444800	Weak transcription	HSMM	muscle
22	chr2:190436800-190442200	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr2:190436800-190442800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:190438600-190441600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:190438600-190444200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:190438800-190441800	Weak transcription	Fetal Heart	heart
27	chr2:190438800-190443000	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:190438800-190444400	Weak transcription	Fetal Thymus	thymus
29	chr2:190439000-190441800	Active TSS	Right Atrium	heart
30	chr2:190439000-190442200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr2:190439000-190442200	Enhancers	HepG2	liver
32	chr2:190439200-190444400	Flanking Active TSS	Liver	Liver
33	chr2:190439400-190441800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr2:190439600-190441600	Enhancers	Colonic Mucosa	Colon
35	chr2:190439600-190441600	Genic enhancers	Fetal Intestine Small	intestine
36	chr2:190439600-190441800	Active TSS	Aorta	Aorta
37	chr2:190439600-190441800	Genic enhancers	Placenta	Placenta
38	chr2:190439600-190442800	Enhancers	Small Intestine	intestine
39	chr2:190439600-190443400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:190439600-190443400	Enhancers	Stomach Mucosa	stomach
41	chr2:190439600-190444600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:190439600-190444600	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr2:190440000-190441600	Weak transcription	Fetal Brain Male	brain
44	chr2:190440000-190441800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr2:190440000-190441800	Weak transcription	Gastric	stomach
46	chr2:190440000-190441800	Weak transcription	Psoas Muscle	Psoas
47	chr2:190440000-190441800	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr2:190440000-190442000	Weak transcription	Esophagus	oesophagus
49	chr2:190440000-190443000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:190440000-190443400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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