Variant report

Variant	rs2122174
Chromosome Location	chr2:98181755-98181756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7568366	0.88[AMR][1000 genomes]
rs9678893	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
2	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
3	nsv431402	chr2:97669032-98281634	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv535831	chr2:97671335-98270990	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	esv2752937	chr2:97708611-98269110	Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	esv2756939	chr2:97708611-98274527	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	esv2763630	chr2:97731133-98279050	Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv431413	chr2:97753585-98274527	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv1004229	chr2:97758953-98225437	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv522486	chr2:97768178-98265491	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	nsv869602	chr2:97820572-98263438	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	nsv874695	chr2:97845100-98253816	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	esv1838312	chr2:97852832-98240470	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	esv1845945	chr2:97859833-98202258	Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv1005903	chr2:97872625-98264679	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
16	nsv999118	chr2:97886322-98264679	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
17	nsv1011958	chr2:97886322-98269110	Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
18	nsv1001249	chr2:97972600-98274527	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
19	nsv1005846	chr2:97972600-98281634	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
20	nsv1010905	chr2:98013814-98269110	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	nsv1003384	chr2:98013814-98270884	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
22	nsv1010167	chr2:98013814-98273619	Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
23	nsv999627	chr2:98013814-98274527	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats 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	20 gene(s)	inside rSNPs	diseases
24	nsv1009263	chr2:98013814-98281634	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
25	esv32869	chr2:98141231-98192553	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
26	nsv1004566	chr2:98146258-98216777	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
27	nsv1010893	chr2:98146258-98225437	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
28	esv1836995	chr2:98155850-98240470	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
29	esv1838952	chr2:98155850-98240470	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
30	esv1842036	chr2:98155850-98257451	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
31	esv1848400	chr2:98168562-98240909	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
32	esv1820988	chr2:98168868-98240470	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
33	esv1829350	chr2:98170405-98315611	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
34	nsv963829	chr2:98177214-98187519	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs2122174	ANKRD36B	cis	Artery Aorta	GTEx
rs2122174	ANKRD36B	cis	Nerve Tibial	GTEx
rs2122174	ZAP70	cis	Nerve Tibial	GTEx
rs2122174	ANKRD36B	cis	Skin Sun Exposed Lower leg	GTEx
rs2122174	ANKRD36B	cis	Esophagus Mucosa	GTEx
rs2122174	ANKRD36B	cis	Artery Tibial	GTEx
rs2122174	ANKRD36	cis	Thyroid	GTEx
rs2122174	ANKRD36B	cis	lung	GTEx
rs2122174	ANKRD36B	cis	Thyroid	GTEx

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98140800-98187600	Weak transcription	Fetal Stomach	stomach
2	chr2:98143600-98205600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:98153400-98189800	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:98154200-98185200	Weak transcription	Fetal Kidney	kidney
5	chr2:98154200-98187000	Weak transcription	Left Ventricle	heart
6	chr2:98156200-98205600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:98156800-98204200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:98160200-98205800	Weak transcription	K562	blood
9	chr2:98161400-98185800	Weak transcription	NHEK	skin
10	chr2:98164000-98204600	Weak transcription	A549	lung
11	chr2:98166000-98191200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:98166400-98190200	Weak transcription	Thymus	Thymus
13	chr2:98166400-98205600	Weak transcription	Brain Germinal Matrix	brain
14	chr2:98168400-98205800	Weak transcription	Fetal Lung	lung
15	chr2:98168400-98205800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr2:98168600-98196200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:98168600-98206000	Weak transcription	NHDF-Ad	bronchial
18	chr2:98168800-98204000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:98169200-98195400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:98169600-98189400	Weak transcription	Ovary	ovary
21	chr2:98169600-98205800	Weak transcription	Fetal Intestine Large	intestine
22	chr2:98170000-98181800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:98171600-98187000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr2:98171600-98205800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr2:98172200-98205600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:98172200-98205800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:98172200-98205800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:98172200-98205800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr2:98172200-98206000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr2:98172400-98191800	Weak transcription	Fetal Brain Female	brain
31	chr2:98172400-98204200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr2:98172400-98204600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:98172400-98206000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:98172800-98196800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:98173400-98196000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:98173400-98205600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:98173400-98205800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr2:98173400-98206000	Weak transcription	Primary T cells from cord blood	blood
39	chr2:98175000-98205800	Weak transcription	Adipose Nuclei	Adipose
40	chr2:98175200-98205600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:98175200-98205600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr2:98175200-98206000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:98175400-98183600	Weak transcription	Brain Anterior Caudate	brain
44	chr2:98176200-98205800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:98176400-98205600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr2:98177000-98190400	Weak transcription	Fetal Thymus	thymus
47	chr2:98177000-98196200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr2:98177000-98204600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr2:98177000-98205800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:98177000-98205800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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