Variant report

Variant	rs1123110
Chromosome Location	chr2:190444199-190444200
allele	C/T
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
ENSG00000138381	Chromatin interaction
ENSG00000115368	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13015236	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1347708	0.81[MEX][hapmap]
rs1439813	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1439814	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1439815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1439816	0.81[JPT][hapmap];0.89[LWK][hapmap]
rs17198983	0.81[CEU][hapmap]
rs1821987	0.80[AMR][1000 genomes]
rs2352267	0.81[CEU][hapmap]
rs4287798	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7604547	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1123110	SLC40A1	cis	parietal	SCAN

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	chr2:190429000-190444400	Weak transcription	Thymus	Thymus
4	chr2:190430400-190444600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:190431200-190444400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:190432000-190444600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:190434200-190444800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:190434400-190444400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:190435800-190444400	Weak transcription	NHLF	lung
10	chr2:190436000-190444800	Weak transcription	HSMM	muscle
11	chr2:190438600-190444200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:190438800-190444400	Weak transcription	Fetal Thymus	thymus
13	chr2:190439200-190444400	Flanking Active TSS	Liver	Liver
14	chr2:190439600-190444600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:190439600-190444600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr2:190440000-190444400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr2:190440000-190444400	Weak transcription	Lung	lung
18	chr2:190440000-190445200	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr2:190440200-190444200	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr2:190440200-190444600	Weak transcription	HSMMtube	muscle
21	chr2:190440200-190445000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:190440600-190444400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:190440600-190444400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr2:190441000-190444600	Weak transcription	HUVEC	blood vessel
25	chr2:190441400-190444600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:190441400-190444600	Transcr. at gene 5' and 3'	Dnd41	blood
27	chr2:190441600-190446400	Active TSS	Rectal Smooth Muscle	rectum
28	chr2:190441800-190444400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr2:190441800-190446000	Active TSS	Stomach Smooth Muscle	stomach
30	chr2:190442000-190444400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:190442000-190444400	Weak transcription	Colonic Mucosa	Colon
32	chr2:190442200-190444200	Weak transcription	HepG2	liver
33	chr2:190442200-190444400	Weak transcription	Gastric	stomach
34	chr2:190442200-190444600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr2:190442200-190444600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:190442200-190444800	Weak transcription	Spleen	Spleen
37	chr2:190442200-190445000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:190442200-190446400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:190442200-190446400	Active TSS	Aorta	Aorta
40	chr2:190442200-190446600	Active TSS	Right Atrium	heart
41	chr2:190442600-190444200	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:190442600-190444400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:190442600-190444400	Weak transcription	Left Ventricle	heart
44	chr2:190442600-190444400	Weak transcription	Psoas Muscle	Psoas
45	chr2:190442600-190444800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:190442600-190445800	Active TSS	Fetal Intestine Small	intestine
47	chr2:190442800-190444400	Weak transcription	Fetal Brain Female	brain
48	chr2:190442800-190444600	Weak transcription	Small Intestine	intestine
49	chr2:190443200-190444400	Weak transcription	Pancreas	Pancrea
50	chr2:190443200-190444400	Active TSS	Rectal Mucosa Donor 31	rectum

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