Variant report

Variant	rs1769975
Chromosome Location	chr6:106726172-106726173
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:106725499..106727039-chr6:106732154..106733918,2	K562	blood:

Extended variants
information (count: 113 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10484575	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11754416	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756379	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756420	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759048	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11760170	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11961415	0.96[ASN][1000 genomes]
rs1623780	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1624009	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1624701	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1626224	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1626503	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1627312	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17488854	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17513225	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1766192	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1766196	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1766199	0.96[ASN][1000 genomes]
rs1766200	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1766205	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1769962	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1769963	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1769964	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1769968	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1769970	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1769971	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1769972	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1769974	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1769978	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1769981	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1832408	0.92[ASN][1000 genomes]
rs2743560	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743562	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743563	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743564	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757132	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757133	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2763210	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2763211	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2763212	0.96[ASN][1000 genomes]
rs2763214	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2763215	0.96[ASN][1000 genomes]
rs2763216	0.96[ASN][1000 genomes]
rs2763217	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2763218	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2763221	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787521	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787525	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2787527	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787528	0.96[ASN][1000 genomes]
rs2787529	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2787530	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787531	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787535	0.96[ASN][1000 genomes]
rs2787536	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2787538	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2787539	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787540	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787543	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787544	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787545	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787546	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787547	0.96[ASN][1000 genomes]
rs2787548	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787549	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787551	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787552	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787553	0.96[ASN][1000 genomes]
rs2791114	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2791116	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2853338	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2853340	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3827647	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41292420	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4310087	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4607457	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs543465	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs577707	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs595875	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs626664	0.96[ASN][1000 genomes]
rs676099	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs687709	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920944	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6930834	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73520690	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73522606	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73522607	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73522610	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73522612	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73522614	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73522619	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73522625	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73522642	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73522648	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs796707	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs960323	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1035110	chr6:106557281-106802212	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS 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	25 gene(s)	inside rSNPs	diseases
6	nsv538400	chr6:106557281-106802212	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS 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	25 gene(s)	inside rSNPs	diseases
7	nsv1022855	chr6:106570926-106802072	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv538401	chr6:106570926-106802072	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv1019265	chr6:106587627-106727591	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv538402	chr6:106587627-106727591	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
12	nsv1025963	chr6:106593639-106848778	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
13	nsv1020047	chr6:106597828-106912047	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv970664	chr6:106635267-106887670	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
15	nsv1030367	chr6:106667748-106802072	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv538403	chr6:106667748-106802072	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv870375	chr6:106696090-107047892	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106676400-106739200	Weak transcription	Small Intestine	intestine
2	chr6:106689800-106734000	Weak transcription	Esophagus	oesophagus
3	chr6:106695800-106740800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr6:106699200-106767400	Weak transcription	Stomach Mucosa	stomach
5	chr6:106706200-106739600	Weak transcription	Hela-S3	cervix
6	chr6:106709000-106739000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:106709800-106739200	Weak transcription	HSMMtube	muscle
8	chr6:106710400-106738800	Weak transcription	HepG2	liver
9	chr6:106710600-106729000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:106711000-106726600	Weak transcription	A549	lung
11	chr6:106711600-106726600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:106711600-106727000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:106711600-106731400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:106711600-106733800	Weak transcription	Gastric	stomach
15	chr6:106711600-106739800	Weak transcription	Fetal Stomach	stomach
16	chr6:106711600-106739800	Weak transcription	Thymus	Thymus
17	chr6:106711600-106762800	Weak transcription	Pancreas	Pancrea
18	chr6:106711600-106762800	Weak transcription	Right Ventricle	heart
19	chr6:106712800-106739600	Weak transcription	Psoas Muscle	Psoas
20	chr6:106713600-106747800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr6:106713800-106728000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr6:106714000-106726400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr6:106715800-106739200	Weak transcription	Fetal Heart	heart
24	chr6:106717000-106726200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr6:106717000-106726800	Weak transcription	Fetal Lung	lung
26	chr6:106717400-106734400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:106717400-106741800	Weak transcription	Colonic Mucosa	Colon
28	chr6:106717800-106726400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:106717800-106726600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr6:106717800-106726800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:106718000-106771600	Weak transcription	Fetal Brain Female	brain
32	chr6:106719400-106726400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:106719600-106726200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:106719600-106731600	Weak transcription	Brain Substantia Nigra	brain
35	chr6:106720000-106726400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:106720000-106726400	Weak transcription	Brain Hippocampus Middle	brain
37	chr6:106720000-106735000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr6:106720200-106738200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr6:106720400-106734800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr6:106720400-106738600	Weak transcription	Fetal Brain Male	brain
41	chr6:106720600-106726800	Weak transcription	HMEC	breast
42	chr6:106720600-106739600	Weak transcription	Aorta	Aorta
43	chr6:106720600-106760400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr6:106721600-106726200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:106721600-106726600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr6:106721800-106726400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr6:106721800-106737200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr6:106721800-106739400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr6:106722200-106739600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr6:106723000-106726400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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