Variant report

Variant	rs6679189
Chromosome Location	chr1:197100556-197100557
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197086007..197089050-chr1:197097882..197101609,3	K562	blood:
2	chr1:197100050..197103962-chr1:197110434..197115621,7	K562	blood:

Extended variants
information (count: 173 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:165)

rs_ID	r²[population]
rs1034162	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10429911	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10494748	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10494749	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10494750	1.00[CHB][hapmap]
rs10732295	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10732296	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10733087	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10737687	0.83[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10754213	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10754214	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10754215	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10754219	0.87[CEU][hapmap]
rs10801587	0.93[EUR][1000 genomes]
rs10801588	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10801590	0.93[EUR][1000 genomes]
rs10801591	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10801593	1.00[ASN][1000 genomes]
rs10801594	1.00[CHB][hapmap]
rs10922163	0.94[YRI][hapmap]
rs10922165	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10922166	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10922169	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1115246	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1115247	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1170880	1.00[CEU][hapmap]
rs1170881	1.00[CEU][hapmap]
rs11801772	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11808524	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11808883	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11811295	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12039586	0.86[EUR][1000 genomes]
rs12092294	1.00[CEU][hapmap]
rs12677	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12731209	1.00[CEU][hapmap]
rs1332662	1.00[CEU][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1332663	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1332669	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1412631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1412632	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1412633	0.93[EUR][1000 genomes]
rs1412634	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1412635	0.94[YRI][hapmap]
rs1412639	0.89[EUR][1000 genomes]
rs1415217	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1537319	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1556763	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1571964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1576878	0.89[EUR][1000 genomes]
rs1627765	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16841212	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16841214	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16841219	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16841220	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16841237	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17514584	1.00[ASN][1000 genomes]
rs17514591	1.00[ASN][1000 genomes]
rs17514606	1.00[ASN][1000 genomes]
rs17514732	1.00[ASN][1000 genomes]
rs17514781	1.00[ASN][1000 genomes]
rs17514795	1.00[ASN][1000 genomes]
rs17514802	1.00[ASN][1000 genomes]
rs17549514	1.00[ASN][1000 genomes]
rs17549540	1.00[ASN][1000 genomes]
rs17549547	1.00[ASN][1000 genomes]
rs17549582	1.00[ASN][1000 genomes]
rs17549596	1.00[ASN][1000 genomes]
rs17549657	1.00[ASN][1000 genomes]
rs17549818	1.00[ASN][1000 genomes]
rs17549859	1.00[ASN][1000 genomes]
rs17549873	1.00[ASN][1000 genomes]
rs1759006	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1759007	0.93[EUR][1000 genomes]
rs1759008	0.93[EUR][1000 genomes]
rs1759009	0.93[EUR][1000 genomes]
rs1759013	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1764800	0.87[CEU][hapmap]
rs1794003	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1794010	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1888991	0.87[CEU][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1953064	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2026429	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2151133	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2151134	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2151135	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2336595	0.89[EUR][1000 genomes]
rs2336597	0.89[EUR][1000 genomes]
rs3737111	0.81[AFR][1000 genomes]
rs3891964	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4342879	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs4350226	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs4556392	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs476390	0.87[CEU][hapmap]
rs4915148	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4915156	0.93[EUR][1000 genomes]
rs4915313	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4915315	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4915316	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4915327	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4915337	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4915345	1.00[EUR][1000 genomes]
rs4915378	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4915379	0.87[CEU][hapmap]
rs510135	0.87[CEU][hapmap]
rs518149	0.87[CEU][hapmap]
rs56660423	1.00[ASN][1000 genomes]
rs57960694	1.00[ASN][1000 genomes]
rs59560396	1.00[ASN][1000 genomes]
rs5997	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6000	1.00[ASN][1000 genomes]
rs6003	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61117530	1.00[ASN][1000 genomes]
rs61249253	1.00[ASN][1000 genomes]
rs61264948	1.00[ASN][1000 genomes]
rs61278057	1.00[ASN][1000 genomes]
rs615647	0.87[CEU][hapmap]
rs616675	0.87[CEU][hapmap]
rs62624968	1.00[ASN][1000 genomes]
rs6428387	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6656448	0.85[CEU][hapmap]
rs6656858	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6669374	1.00[ASN][1000 genomes]
rs6669388	1.00[ASN][1000 genomes]
rs6671696	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6675840	1.00[ASN][1000 genomes]
rs6677082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6680497	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6685259	0.93[EUR][1000 genomes]
rs6695300	1.00[EUR][1000 genomes]
rs6701681	1.00[ASN][1000 genomes]
rs6702739	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6703400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7411719	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7513826	0.87[CEU][hapmap]
rs7516700	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7520503	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7523013	0.87[CEU][hapmap]
rs7534353	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7534439	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7535048	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7535814	1.00[ASN][1000 genomes]
rs7539642	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7541429	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7542397	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7549438	1.00[ASN][1000 genomes]
rs7554757	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7554802	1.00[ASN][1000 genomes]
rs7554881	1.00[ASN][1000 genomes]
rs7554890	1.00[ASN][1000 genomes]
rs857017	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs857020	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs857021	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs857022	0.89[EUR][1000 genomes]
rs857023	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs857026	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs857027	0.89[EUR][1000 genomes]
rs865071	0.88[EUR][1000 genomes]
rs877897	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs928439	1.00[CEU][hapmap]
rs928440	1.00[CEU][hapmap]
rs9427660	1.00[CEU][hapmap]
rs9427661	1.00[CEU][hapmap]
rs9427662	1.00[CEU][hapmap]
rs9427942	1.00[CEU][hapmap]
rs9726778	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
6	nsv873070	chr1:197079671-197165014	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv873071	chr1:197079671-197187605	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv873072	chr1:197079671-197221248	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197052200-197106600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:197052200-197114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:197054200-197113600	Weak transcription	Fetal Kidney	kidney
4	chr1:197055000-197114200	Weak transcription	Primary B cells from cord blood	blood
5	chr1:197071000-197105400	Strong transcription	Dnd41	blood
6	chr1:197071800-197104600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:197072600-197104600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr1:197072600-197107400	Weak transcription	Fetal Intestine Small	intestine
9	chr1:197073000-197104000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr1:197073000-197115000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:197074000-197115000	Weak transcription	Fetal Brain Male	brain
12	chr1:197074200-197102000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:197077000-197114200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:197080600-197105400	Strong transcription	Fetal Thymus	thymus
15	chr1:197081200-197103000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:197083600-197108000	Strong transcription	HUVEC	blood vessel
17	chr1:197084400-197102000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:197084400-197106600	Weak transcription	Fetal Stomach	stomach
19	chr1:197085800-197109600	Weak transcription	Brain Germinal Matrix	brain
20	chr1:197085800-197111000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:197089200-197105200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:197089800-197101000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:197089800-197105200	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:197089800-197108400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:197090000-197110800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:197090400-197101000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:197091000-197106600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr1:197092600-197100600	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:197092600-197101000	Weak transcription	Placenta	Placenta
30	chr1:197093600-197104600	Strong transcription	K562	blood
31	chr1:197093800-197108400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:197095800-197101200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:197095800-197102600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:197095800-197114400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:197096200-197105400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:197096400-197101200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:197096400-197101200	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:197096400-197106600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:197096800-197101600	Strong transcription	GM12878-XiMat	blood
40	chr1:197097800-197106600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr1:197098200-197101200	Genic enhancers	HUES48 Cell Line	embryonic stem cell
42	chr1:197098200-197101200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr1:197098600-197100600	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr1:197098600-197100800	Strong transcription	Fetal Intestine Large	intestine
45	chr1:197099000-197100600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:197099000-197100800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:197099000-197101000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
48	chr1:197099200-197102000	Weak transcription	Fetal Lung	lung
49	chr1:197099200-197109600	Weak transcription	HepG2	liver
50	chr1:197099400-197100600	Weak transcription	H1 Cell Line	embryonic stem cell

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