Variant report

Variant	rs10922163
Chromosome Location	chr1:197077391-197077392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197075415..197078387-chr1:197103819..197106746,2	K562	blood:

Variant related genes	Relation type
ENSG00000066279	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1034162	0.85[YRI][hapmap]
rs10484502	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10737685	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10754209	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10754216	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10801589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1127661	0.81[JPT][hapmap]
rs12755054	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1332661	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1332662	0.81[YRI][hapmap]
rs1332667	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1412635	0.93[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1571964	0.84[YRI][hapmap]
rs1611982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1615413	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1750311	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17550014	0.91[ASN][1000 genomes]
rs17550411	0.89[ASN][1000 genomes]
rs1759016	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs2151134	0.89[YRI][hapmap]
rs2298882	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2336596	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2878749	0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs3737110	0.89[ASN][1000 genomes]
rs3737111	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3748557	0.81[JPT][hapmap]
rs3762271	0.91[ASN][1000 genomes]
rs41304071	0.91[ASN][1000 genomes]
rs41308365	0.91[ASN][1000 genomes]
rs41310911	0.89[ASN][1000 genomes]
rs41310925	0.91[ASN][1000 genomes]
rs41310927	0.91[ASN][1000 genomes]
rs4244139	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56084994	0.91[ASN][1000 genomes]
rs5990	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5996	0.81[ASN][1000 genomes]
rs5998	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61819074	0.86[ASN][1000 genomes]
rs61819087	0.91[ASN][1000 genomes]
rs61819088	0.91[ASN][1000 genomes]
rs61819089	0.91[ASN][1000 genomes]
rs6677930	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs6690730	0.89[ASN][1000 genomes]
rs6700180	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6702252	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6703400	0.84[YRI][hapmap]
rs698859	0.81[JPT][hapmap]
rs72736469	0.81[ASN][1000 genomes]
rs72736474	0.81[ASN][1000 genomes]
rs7410943	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7514071	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7518773	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7525490	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs857018	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs955927	0.86[ASN][1000 genomes]
rs9727516	0.82[JPT][hapmap]

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	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv873069	chr1:197055925-197109042	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197052200-197083600	Weak transcription	Fetal Stomach	stomach
2	chr1:197052200-197106600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:197052200-197114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:197054200-197113600	Weak transcription	Fetal Kidney	kidney
5	chr1:197055000-197114200	Weak transcription	Primary B cells from cord blood	blood
6	chr1:197066600-197083600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:197067000-197092200	Weak transcription	Fetal Intestine Large	intestine
8	chr1:197070600-197100000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:197070800-197078000	Strong transcription	Fetal Thymus	thymus
10	chr1:197070800-197085400	Weak transcription	Osteobl	bone
11	chr1:197071000-197084400	Weak transcription	Fetal Heart	heart
12	chr1:197071000-197105400	Strong transcription	Dnd41	blood
13	chr1:197071200-197077400	Strong transcription	Fetal Lung	lung
14	chr1:197071400-197095800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:197071600-197077800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:197071800-197104600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:197072400-197078000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:197072600-197078400	Strong transcription	A549	lung
19	chr1:197072600-197087400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:197072600-197104600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr1:197072600-197107400	Weak transcription	Fetal Intestine Small	intestine
22	chr1:197072800-197078600	Strong transcription	Hela-S3	cervix
23	chr1:197073000-197078000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:197073000-197079600	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:197073000-197104000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr1:197073000-197115000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:197073200-197078200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:197073400-197078600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:197073600-197098400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:197073800-197083400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:197073800-197085200	Weak transcription	GM12878-XiMat	blood
32	chr1:197073800-197091400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:197074000-197077400	Weak transcription	HUVEC	blood vessel
34	chr1:197074000-197077800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:197074000-197078000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:197074000-197080000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:197074000-197085400	Weak transcription	HepG2	liver
38	chr1:197074000-197115000	Weak transcription	Fetal Brain Male	brain
39	chr1:197074200-197077800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:197074200-197078200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:197074200-197085000	Weak transcription	NHDF-Ad	bronchial
42	chr1:197074200-197091400	Weak transcription	NHEK	skin
43	chr1:197074200-197102000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr1:197074800-197082200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:197075200-197077800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:197076000-197077800	Strong transcription	HSMM	muscle
47	chr1:197076000-197079600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:197076200-197094000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:197076400-197079600	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:197076400-197080400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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