Variant report

Variant	rs2103229
Chromosome Location	chr7:102059953-102059954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102038531..102040134-chr7:102059494..102061568,2	MCF-7	breast:
2	chr7:102059807..102062307-chr7:102104832..102107018,2	K562	blood:
3	chr7:102051596..102053121-chr7:102059807..102061560,2	MCF-7	breast:
4	chr7:102053638..102056399-chr7:102058693..102060574,2	K562	blood:
5	chr7:102059459..102062564-chr7:102072253..102075320,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239480	Chromatin interaction
ENSG00000266715	Chromatin interaction
ENSG00000160991	Chromatin interaction
ENSG00000160993	Chromatin interaction
ENSG00000161036	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10225683	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10226565	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10233236	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10233461	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10235407	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10237343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10239657	0.84[EUR][1000 genomes]
rs10243209	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10246324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10249217	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10249222	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10249581	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10255036	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10268289	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10268970	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10276094	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10277996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10278274	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11982980	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11983129	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12672132	0.83[EUR][1000 genomes]
rs17135197	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1983476	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1997164	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2410990	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2411005	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28427402	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28539797	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28879187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4481505	0.81[EUR][1000 genomes]
rs4729789	0.81[EUR][1000 genomes]
rs56295031	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62482952	0.81[AFR][1000 genomes]
rs6465859	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6947435	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6951185	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6953087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6958795	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6968325	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6970496	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6974177	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7384178	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7385200	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7787493	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9632724	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1814780	chr7:101912320-102375950	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv1819566	chr7:101912320-102375950	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1822347	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv1825708	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv1842898	chr7:101912320-102375950	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	esv1847418	chr7:101912320-102375950	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv427798	chr7:101912320-102375950	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv428182	chr7:101912320-102375950	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats 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 miRNA target site	76 gene(s)	inside rSNPs	diseases
10	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
11	nsv1029079	chr7:101939998-102112371	Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
12	esv1818954	chr7:101957513-102328097	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	esv1828190	chr7:101966669-102439077	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
14	esv1829377	chr7:101970299-102330884	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv831083	chr7:101981005-102295869	Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
16	esv1806297	chr7:101981544-102330884	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
17	esv1810415	chr7:101993063-102375950	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
18	esv1811751	chr7:101993063-102375950	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
19	esv1829118	chr7:101993063-102375950	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
20	esv1833155	chr7:101993063-102375950	Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2103229	ORAI2	cis	Whole Blood	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102038000-102066800	Weak transcription	Stomach Mucosa	stomach
2	chr7:102038800-102068600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:102039000-102062400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:102039000-102062400	Strong transcription	Stomach Smooth Muscle	stomach
5	chr7:102039200-102062400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:102039200-102062600	Strong transcription	Dnd41	blood
7	chr7:102039200-102068200	Strong transcription	Placenta	Placenta
8	chr7:102039200-102070000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:102039400-102060200	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr7:102039400-102060600	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:102039400-102061000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:102039400-102061600	Strong transcription	Fetal Intestine Large	intestine
13	chr7:102039400-102063000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:102039400-102063600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:102039600-102060000	Strong transcription	Fetal Lung	lung
16	chr7:102039600-102067800	Strong transcription	Liver	Liver
17	chr7:102039600-102068200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:102039800-102065800	Strong transcription	Adipose Nuclei	Adipose
19	chr7:102039800-102068600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:102042600-102062400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:102045000-102067800	Strong transcription	HepG2	liver
22	chr7:102048600-102060800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:102050600-102064200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:102050800-102062400	Strong transcription	Brain Germinal Matrix	brain
25	chr7:102050800-102062600	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr7:102050800-102063000	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:102050800-102064400	Strong transcription	Fetal Muscle Trunk	muscle
28	chr7:102050800-102065000	Strong transcription	Fetal Stomach	stomach
29	chr7:102050800-102066000	Strong transcription	Fetal Intestine Small	intestine
30	chr7:102050800-102073400	Weak transcription	Psoas Muscle	Psoas
31	chr7:102051000-102062200	Strong transcription	Lung	lung
32	chr7:102051000-102063200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:102051000-102064600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:102051000-102065600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:102051000-102068400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:102051000-102068600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:102051200-102061200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr7:102051200-102064600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:102051200-102073400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr7:102051400-102074400	Weak transcription	Fetal Heart	heart
41	chr7:102051600-102070000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:102053400-102060800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr7:102053400-102064200	Strong transcription	Fetal Muscle Leg	muscle
44	chr7:102053600-102073200	Weak transcription	Right Atrium	heart
45	chr7:102053800-102062400	Weak transcription	Ovary	ovary
46	chr7:102053800-102064600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr7:102054000-102060600	Weak transcription	HMEC	breast
48	chr7:102054000-102073400	Weak transcription	Small Intestine	intestine
49	chr7:102054200-102062400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:102054600-102064600	Weak transcription	Fetal Brain Male	brain

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