Variant report

Variant	rs372994
Chromosome Location	chr6:149774451-149774452
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	chr6:149764839..149766396-chr6:149774052..149775951,2	MCF-7	breast:
2	chr6:149399709..149402380-chr6:149772394..149774498,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs11155656	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11155657	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs112225	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190660	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1737336	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1737337	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1749227	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1768341	0.93[ASN][1000 genomes]
rs1999970	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2095849	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs237004	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs237006	0.86[ASN][1000 genomes]
rs237007	0.86[ASN][1000 genomes]
rs237008	0.84[ASN][1000 genomes]
rs367133	0.91[ASN][1000 genomes]
rs367161	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs367812	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs370471	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs373596	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs374616	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs376269	0.93[ASN][1000 genomes]
rs376757	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs377454	0.96[ASN][1000 genomes]
rs377532	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs378991	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs381226	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs381793	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs382084	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs382720	0.93[ASN][1000 genomes]
rs383092	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs384163	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs384306	0.93[ASN][1000 genomes]
rs384913	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs385303	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs385657	0.86[ASN][1000 genomes]
rs388335	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs391875	0.93[ASN][1000 genomes]
rs392928	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs392932	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs393713	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs394375	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs394526	0.89[ASN][1000 genomes]
rs395037	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs398159	0.93[ASN][1000 genomes]
rs403419	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405486	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs407260	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs408451	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs409196	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs410579	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411091	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs411308	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs414956	0.86[ASN][1000 genomes]
rs416044	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs416262	0.86[ASN][1000 genomes]
rs419562	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs419997	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs421037	0.88[ASN][1000 genomes]
rs425278	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs430192	0.86[ASN][1000 genomes]
rs431362	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs431978	0.87[ASN][1000 genomes]
rs432582	0.93[ASN][1000 genomes]
rs436645	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs437931	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs439369	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs439495	0.93[ASN][1000 genomes]
rs440613	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs450344	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs452586	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs499270	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs543489	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs602010	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs602094	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs611311	0.83[ASN][1000 genomes]
rs677525	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs786749	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786750	0.96[ASN][1000 genomes]
rs786751	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786757	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs814181	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9485396	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530444	chr6:149654540-149848997	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats 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	7 gene(s)	inside rSNPs	diseases
2	nsv470866	chr6:149744632-149806552	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv5533	chr6:149748047-149793072	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv464076	chr6:149755695-149798835	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv604846	chr6:149755695-149798835	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3355637	chr6:149769659-149774457	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149768400-149779400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:149769600-149782800	Strong transcription	Primary B cells from peripheral blood	blood
3	chr6:149769600-149787200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:149769800-149779800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr6:149770000-149779600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:149770000-149785200	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr6:149771600-149778000	Weak transcription	GM12878-XiMat	blood
8	chr6:149771800-149775600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:149771800-149775800	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr6:149772000-149788800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr6:149772200-149775200	Strong transcription	Spleen	Spleen
12	chr6:149772200-149776600	Enhancers	Liver	Liver
13	chr6:149772400-149776600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr6:149772400-149776600	Enhancers	Fetal Lung	lung
15	chr6:149772600-149774800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:149772600-149774800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr6:149772600-149775000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:149772600-149776400	Enhancers	Small Intestine	intestine
19	chr6:149772600-149779400	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr6:149772600-149787000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:149772800-149774600	Enhancers	Right Ventricle	heart
22	chr6:149772800-149774800	Weak transcription	Aorta	Aorta
23	chr6:149772800-149774800	Enhancers	Stomach Smooth Muscle	stomach
24	chr6:149772800-149775000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr6:149772800-149775000	Weak transcription	Psoas Muscle	Psoas
26	chr6:149772800-149776400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr6:149773000-149774600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr6:149773000-149774600	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr6:149773000-149774800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:149773000-149774800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:149773000-149774800	Weak transcription	Colon Smooth Muscle	Colon
32	chr6:149773000-149775000	Weak transcription	Left Ventricle	heart
33	chr6:149773000-149776800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr6:149773000-149778200	Weak transcription	Thymus	Thymus
35	chr6:149773000-149779600	Weak transcription	Primary T cells from cord blood	blood
36	chr6:149773000-149783400	Strong transcription	Primary B cells from cord blood	blood
37	chr6:149773200-149774800	Enhancers	Hela-S3	cervix
38	chr6:149773200-149774800	Weak transcription	NHEK	skin
39	chr6:149773200-149775000	Weak transcription	Brain Angular Gyrus	brain
40	chr6:149773200-149775000	Weak transcription	Brain Substantia Nigra	brain
41	chr6:149773200-149775000	Weak transcription	Esophagus	oesophagus
42	chr6:149773200-149775000	Weak transcription	NH-A	brain
43	chr6:149773200-149776600	Enhancers	Colonic Mucosa	Colon
44	chr6:149773200-149776600	Enhancers	Duodenum Mucosa	Duodenum
45	chr6:149773400-149774600	Weak transcription	Fetal Heart	heart
46	chr6:149773400-149774800	Weak transcription	Fetal Kidney	kidney
47	chr6:149773400-149775000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr6:149773400-149775000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr6:149773400-149777000	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr6:149773600-149774800	Weak transcription	Brain Hippocampus Middle	brain

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