Variant report

Variant	rs1757129
Chromosome Location	chr1:228432987-228432988
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:228432015..228434186-chr1:228643994..228645645,2	K562	blood:

Variant related genes	Relation type
ENSG00000181218	Chromatin interaction

Extended variants
information (count: 133 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs1059778	0.83[EUR][1000 genomes]
rs10753445	0.84[EUR][1000 genomes]
rs10799468	0.80[EUR][1000 genomes]
rs10799471	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10916268	0.81[EUR][1000 genomes]
rs10916271	0.83[EUR][1000 genomes]
rs11578798	0.88[ASN][1000 genomes]
rs11580411	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11581167	0.88[ASN][1000 genomes]
rs11582927	0.88[ASN][1000 genomes]
rs11584385	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11799681	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11804508	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12024649	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12118872	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12726781	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12745416	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1331303	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1411910	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1411911	0.87[EUR][1000 genomes]
rs1411913	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1620111	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1629290	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1629294	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1757132	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1757133	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1757138	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1757139	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1757140	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1757141	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1757142	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1757144	0.97[EUR][1000 genomes]
rs1757145	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1757147	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1757148	0.97[EUR][1000 genomes]
rs1757149	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1757150	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1757151	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1757152	0.96[EUR][1000 genomes]
rs1757155	0.97[EUR][1000 genomes]
rs1757156	0.97[EUR][1000 genomes]
rs1757158	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17640616	0.86[EUR][1000 genomes]
rs1771459	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1771460	0.97[EUR][1000 genomes]
rs1771461	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1771462	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1771467	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1771468	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1771469	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1771470	0.96[EUR][1000 genomes]
rs1771471	0.97[EUR][1000 genomes]
rs1771472	0.96[EUR][1000 genomes]
rs1771474	0.97[EUR][1000 genomes]
rs1771476	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1771477	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1771478	0.97[EUR][1000 genomes]
rs1771479	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1771482	0.97[EUR][1000 genomes]
rs1771483	0.97[EUR][1000 genomes]
rs1771484	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1771485	0.96[EUR][1000 genomes]
rs1771487	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2185544	0.84[EUR][1000 genomes]
rs2313601	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2313602	0.81[EUR][1000 genomes]
rs2776845	0.97[EUR][1000 genomes]
rs2776853	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2776855	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2776856	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2792984	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2872538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2989563	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3121188	0.82[EUR][1000 genomes]
rs3121190	0.87[EUR][1000 genomes]
rs3121191	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3121192	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3795777	0.95[EUR][1000 genomes]
rs3795782	0.87[EUR][1000 genomes]
rs3795795	0.88[ASN][1000 genomes]
rs3795801	0.88[ASN][1000 genomes]
rs45473794	0.81[ASN][1000 genomes]
rs4653536	0.81[EUR][1000 genomes]
rs4653543	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4653545	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4653549	0.88[ASN][1000 genomes]
rs4653931	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653933	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4653934	0.86[EUR][1000 genomes]
rs4653935	0.88[ASN][1000 genomes]
rs4653936	0.88[ASN][1000 genomes]
rs4653941	0.88[ASN][1000 genomes]
rs474735	0.90[ASN][1000 genomes]
rs489926	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs491293	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs493945	0.81[EUR][1000 genomes]
rs504474	0.90[ASN][1000 genomes]
rs512406	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs535329	0.90[ASN][1000 genomes]
rs545313	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs546967	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55658545	0.86[EUR][1000 genomes]
rs55971985	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56021350	0.88[ASN][1000 genomes]
rs56112646	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56168609	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs566640	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61825279	0.84[EUR][1000 genomes]
rs61825301	0.88[ASN][1000 genomes]
rs61825302	0.88[ASN][1000 genomes]
rs61825308	0.88[ASN][1000 genomes]
rs61827540	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661539	0.84[EUR][1000 genomes]
rs72757829	0.84[EUR][1000 genomes]
rs7525075	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7532141	0.85[EUR][1000 genomes]
rs7532924	0.85[EUR][1000 genomes]
rs936884	0.90[ASN][1000 genomes]
rs947087	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS 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	133 gene(s)	inside rSNPs	diseases
7	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
8	nsv1012078	chr1:228340876-228521843	Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
9	nsv535320	chr1:228340876-228521843	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
10	nsv873263	chr1:228391808-228494790	Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv873264	chr1:228423647-228543800	Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv520340	chr1:228423936-228456147	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	esv3430736	chr1:228431790-228433010	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3422970	chr1:228432129-228433500	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1757129	OBSCN	cis	Esophagus Mucosa	GTEx
rs1757129	OBSCN	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228417200-228433000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:228418400-228436000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:228422200-228434800	ZNF genes & repeats	Dnd41	blood
4	chr1:228425800-228434200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:228426000-228435200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr1:228426600-228434400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:228427000-228435600	ZNF genes & repeats	Brain Germinal Matrix	brain
8	chr1:228427200-228434600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:228428000-228433400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr1:228428200-228433200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr1:228428200-228434200	ZNF genes & repeats	Fetal Lung	lung
12	chr1:228428200-228434600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:228428200-228435000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
14	chr1:228428400-228434000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr1:228428400-228434400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr1:228428400-228434600	ZNF genes & repeats	Liver	Liver
17	chr1:228428400-228434600	ZNF genes & repeats	Fetal Intestine Large	intestine
18	chr1:228428400-228435200	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr1:228428400-228436600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chr1:228428600-228433600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:228428600-228434400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
22	chr1:228428600-228434600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
23	chr1:228428600-228434800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
24	chr1:228428600-228435000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
25	chr1:228428600-228435000	ZNF genes & repeats	Fetal Muscle Leg	muscle
26	chr1:228428800-228434800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
27	chr1:228429000-228434800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
28	chr1:228429000-228439400	Strong transcription	HSMMtube	muscle
29	chr1:228430000-228435200	ZNF genes & repeats	Fetal Kidney	kidney
30	chr1:228430200-228433800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
31	chr1:228430200-228434000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
32	chr1:228430200-228434600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
33	chr1:228430200-228435000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:228430400-228433200	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr1:228430400-228433400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
36	chr1:228430400-228434400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
37	chr1:228430400-228434600	ZNF genes & repeats	Spleen	Spleen
38	chr1:228430400-228434800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
39	chr1:228430400-228434800	ZNF genes & repeats	Fetal Stomach	stomach
40	chr1:228430400-228435000	ZNF genes & repeats	A549	lung
41	chr1:228430400-228435200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:228430400-228435200	ZNF genes & repeats	Thymus	Thymus
43	chr1:228430400-228435800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:228430400-228436600	ZNF genes & repeats	Fetal Intestine Small	intestine
45	chr1:228430600-228433400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:228430600-228433400	ZNF genes & repeats	Aorta	Aorta
47	chr1:228430600-228447000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr1:228430800-228433400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:228430800-228433400	ZNF genes & repeats	Lung	lung
50	chr1:228430800-228434600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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