Variant report

Variant	rs2048994
Chromosome Location	chr1:224347918-224347919
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224347894..224350101-chr1:224385502..224388281,2	K562	blood:
2	chr1:224345362..224348351-chr1:224369651..224372388,2	K562	blood:
3	chr1:224344874..224349477-chr1:224369651..224372388,4	K562	blood:
4	chr1:224347222..224350082-chr1:224351208..224355016,4	K562	blood:
5	chr1:224335933..224338116-chr1:224346191..224348944,2	K562	blood:
6	chr1:224227960..224229471-chr1:224345929..224348019,2	K562	blood:
7	chr1:224301857..224303494-chr1:224346848..224349418,2	K562	blood:
8	chr1:224339407..224345322-chr1:224346058..224350848,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143756	Chromatin interaction
ENSG00000143753	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10737430	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10737435	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10737437	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753448	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753453	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753455	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10799483	1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10799486	1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916326	1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916328	1.00[JPT][hapmap];0.95[YRI][hapmap]
rs10916351	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs10916388	1.00[ASW][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916472	1.00[JPT][hapmap]
rs11804140	1.00[ASW][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12239466	0.82[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap]
rs13313058	1.00[ASN][1000 genomes]
rs1586888	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1602706	1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1810344	0.83[AFR][1000 genomes]
rs1891738	0.83[ASW][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1891739	1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2035897	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2172359	0.92[ASW][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404844	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404845	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404846	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404847	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2896984	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs2896986	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4353057	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653565	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4653955	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653956	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653985	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4653987	0.90[AFR][1000 genomes]
rs56718298	1.00[ASN][1000 genomes]
rs56887412	1.00[ASN][1000 genomes]
rs57138220	1.00[ASN][1000 genomes]
rs57746928	1.00[ASN][1000 genomes]
rs57823919	1.00[ASN][1000 genomes]
rs58090997	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59018039	1.00[ASN][1000 genomes]
rs59368039	1.00[ASN][1000 genomes]
rs59518883	1.00[ASN][1000 genomes]
rs59819476	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60013765	1.00[ASN][1000 genomes]
rs60381264	1.00[ASN][1000 genomes]
rs60432349	1.00[ASN][1000 genomes]
rs60643079	1.00[ASN][1000 genomes]
rs60972853	1.00[ASN][1000 genomes]
rs61074366	1.00[ASN][1000 genomes]
rs61144016	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61347348	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61495337	1.00[ASN][1000 genomes]
rs6426108	1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426112	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426135	0.86[AFR][1000 genomes]
rs6426162	1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6657160	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6659249	1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6663997	1.00[ASN][1000 genomes]
rs6668856	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668862	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670475	1.00[ASN][1000 genomes]
rs6670483	1.00[ASN][1000 genomes]
rs6670591	1.00[ASN][1000 genomes]
rs6671784	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6679683	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687331	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689914	1.00[ASN][1000 genomes]
rs6689922	1.00[ASN][1000 genomes]
rs6690358	1.00[ASN][1000 genomes]
rs6690543	1.00[ASN][1000 genomes]
rs6702019	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704386	0.91[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73120501	1.00[ASN][1000 genomes]
rs73122403	1.00[ASN][1000 genomes]
rs73122404	1.00[ASN][1000 genomes]
rs73122411	1.00[ASN][1000 genomes]
rs73122413	1.00[ASN][1000 genomes]
rs73122436	1.00[ASN][1000 genomes]
rs73122438	1.00[ASN][1000 genomes]
rs73122441	1.00[ASN][1000 genomes]
rs73122446	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124453	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126416	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7526301	0.96[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7526876	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7535007	0.83[ASW][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7537121	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7546034	1.00[MEX][hapmap]
rs908793	1.00[ASW][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs908796	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs937155	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs969008	1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs969009	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv1792939	chr1:224336636-224351023	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224303000-224363400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:224316600-224352200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:224325000-224351000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:224327600-224356400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:224335800-224349600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:224338400-224349200	Strong transcription	Primary B cells from peripheral blood	blood
7	chr1:224339000-224350000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:224339200-224363200	Weak transcription	Brain Angular Gyrus	brain
9	chr1:224340200-224348400	Strong transcription	Fetal Thymus	thymus
10	chr1:224340800-224348200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:224340800-224349000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:224341000-224349800	Strong transcription	Fetal Intestine Large	intestine
13	chr1:224341600-224349200	Strong transcription	A549	lung
14	chr1:224342600-224348400	Strong transcription	Primary T cells from cord blood	blood
15	chr1:224342800-224348600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:224343000-224348200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:224343000-224350000	Strong transcription	Liver	Liver
18	chr1:224343000-224350200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:224343000-224350200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:224343000-224350200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:224343200-224348200	Strong transcription	Hela-S3	cervix
22	chr1:224343200-224348400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:224343200-224348400	Strong transcription	Colon Smooth Muscle	Colon
24	chr1:224343200-224348400	Strong transcription	Fetal Kidney	kidney
25	chr1:224343200-224350000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:224343200-224350000	Strong transcription	Primary B cells from cord blood	blood
27	chr1:224343200-224350000	Strong transcription	HSMM	muscle
28	chr1:224343200-224350200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:224343200-224350200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:224343200-224350200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:224343200-224350600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:224343400-224348200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr1:224343400-224348400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:224343400-224348400	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr1:224343400-224348400	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:224343400-224348800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:224343400-224348800	Strong transcription	Dnd41	blood
38	chr1:224343400-224349200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr1:224343400-224350000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:224343400-224350200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:224343400-224350200	Strong transcription	Adipose Nuclei	Adipose
42	chr1:224343400-224350200	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:224343400-224350200	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr1:224343600-224348200	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr1:224343600-224350200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:224343800-224348600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:224344000-224350000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:224344600-224350200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:224344800-224348200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:224344800-224348600	Strong transcription	Stomach Smooth Muscle	stomach

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