Variant report

Variant	rs12123634
Chromosome Location	chr1:224196167-224196168
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10916149	0.84[EUR][1000 genomes]
rs11800372	0.80[AMR][1000 genomes]
rs12121620	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12562321	0.81[EUR][1000 genomes]
rs2404851	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4653912	0.82[EUR][1000 genomes]
rs59220538	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61823286	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61823340	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv873215	chr1:224075483-224204433	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv873216	chr1:224075483-224230307	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv873218	chr1:224097155-224204433	Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv873219	chr1:224097155-224216822	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv873220	chr1:224097155-224223659	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv549241	chr1:224103992-224216757	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv549242	chr1:224115297-224203918	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv549243	chr1:224115297-224216757	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv945316	chr1:224133366-224196526	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv549244	chr1:224183599-224202820	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv549245	chr1:224183599-224203686	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv549246	chr1:224183599-224203833	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv549247	chr1:224183599-224203918	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv549248	chr1:224183599-224216757	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv549249	chr1:224183599-224216822	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	esv2457419	chr1:224184276-224201973	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	esv1847784	chr1:224185036-224227122	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	esv1795476	chr1:224186148-224226044	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12123634	RP11-504P24.4	cis	Thyroid	GTEx
rs12123634	RP11-504P24.3	cis	Thyroid	GTEx
rs12123634	RP11-504P24.6	cis	Thyroid	GTEx

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224181200-224199200	Weak transcription	Brain Substantia Nigra	brain
2	chr1:224181400-224199200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:224181600-224196400	Weak transcription	Fetal Intestine Large	intestine
4	chr1:224181600-224196400	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:224181600-224196400	Weak transcription	A549	lung
6	chr1:224181600-224199000	Weak transcription	Fetal Stomach	stomach
7	chr1:224181600-224199200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:224181600-224199200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:224181600-224199200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:224181600-224199200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:224181600-224199200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:224181600-224199200	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:224181600-224199400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:224181600-224199400	Weak transcription	NH-A	brain
15	chr1:224181800-224196600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:224181800-224197800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:224181800-224199200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:224181800-224199200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:224181800-224199200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr1:224181800-224199200	Weak transcription	Adipose Nuclei	Adipose
21	chr1:224181800-224199200	Weak transcription	Brain Anterior Caudate	brain
22	chr1:224181800-224199200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:224181800-224199200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:224181800-224199200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:224181800-224199200	Weak transcription	Fetal Kidney	kidney
26	chr1:224181800-224199200	Weak transcription	Ovary	ovary
27	chr1:224181800-224199200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:224181800-224199200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:224181800-224201800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:224182200-224198800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:224182200-224199000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:224182200-224199000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:224182200-224199000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:224182200-224199200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr1:224182200-224199200	Weak transcription	Dnd41	blood
36	chr1:224182200-224199200	Weak transcription	GM12878-XiMat	blood
37	chr1:224184800-224199200	Weak transcription	Left Ventricle	heart
38	chr1:224187200-224199000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr1:224187200-224199200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:224188200-224199200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:224188400-224199200	Weak transcription	Fetal Lung	lung
42	chr1:224188400-224199200	Weak transcription	NHDF-Ad	bronchial
43	chr1:224188800-224196400	Weak transcription	Psoas Muscle	Psoas
44	chr1:224190000-224199200	Weak transcription	Gastric	stomach
45	chr1:224190600-224199200	Weak transcription	HUVEC	blood vessel
46	chr1:224190800-224199200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:224190800-224199200	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:224191600-224199200	Weak transcription	Brain Angular Gyrus	brain
49	chr1:224191800-224199200	Weak transcription	Pancreas	Pancrea
50	chr1:224192000-224197400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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