Variant report

Variant	rs41312800
Chromosome Location	chr6:107017711-107017712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:107016200..107018063-chr6:107021199..107023024,2	MCF-7	breast:
2	chr6:106891408..106894325-chr6:107016587..107019305,2	MCF-7	breast:
3	chr6:107015186..107019072-chr6:107020325..107023506,3	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs12523666	1.00[AFR][1000 genomes]
rs12525004	1.00[AFR][1000 genomes]
rs12526024	1.00[AFR][1000 genomes]
rs12528136	1.00[AFR][1000 genomes]
rs12528406	1.00[AFR][1000 genomes]
rs12529961	1.00[AFR][1000 genomes]
rs12530093	1.00[AFR][1000 genomes]
rs1676030	0.93[EUR][1000 genomes]
rs17067395	1.00[AFR][1000 genomes]
rs17067428	1.00[AFR][1000 genomes]
rs17495248	0.86[AFR][1000 genomes]
rs17495623	0.86[AFR][1000 genomes]
rs17495742	0.86[AFR][1000 genomes]
rs41292422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55904932	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs59962977	1.00[AFR][1000 genomes]
rs61741114	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72941307	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs72941326	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72941373	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72943025	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72945007	1.00[AFR][1000 genomes]
rs72945008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72945013	1.00[AFR][1000 genomes]
rs72945015	1.00[AFR][1000 genomes]
rs72945018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72945026	1.00[AFR][1000 genomes]
rs72945029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72945030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72945035	1.00[AFR][1000 genomes]
rs72945036	1.00[AFR][1000 genomes]
rs72945040	1.00[AFR][1000 genomes]
rs72945045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72945046	1.00[AFR][1000 genomes]
rs72945047	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72945056	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72945059	1.00[AFR][1000 genomes]
rs72945067	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72945068	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72945071	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72945072	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72945075	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72945079	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72945081	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72945093	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72945095	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72945097	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72945098	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106964800-107029800	Weak transcription	Small Intestine	intestine
2	chr6:106970600-107022400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:106985800-107019200	Weak transcription	Aorta	Aorta
4	chr6:106994000-107017800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr6:106994200-107019400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:106994200-107019600	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr6:106995000-107019400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr6:106995200-107018800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:106996200-107018400	Weak transcription	Fetal Stomach	stomach
10	chr6:106996200-107022400	Weak transcription	Ovary	ovary
11	chr6:106996200-107023000	Weak transcription	Stomach Mucosa	stomach
12	chr6:106996400-107027000	Strong transcription	Primary B cells from peripheral blood	blood
13	chr6:106996400-107030800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:106996400-107074000	Weak transcription	Fetal Kidney	kidney
15	chr6:106996600-107018400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr6:106996600-107022400	Weak transcription	HUVEC	blood vessel
17	chr6:106999000-107022400	Weak transcription	Right Ventricle	heart
18	chr6:106999200-107022400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:106999800-107030600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr6:107000400-107018800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:107000800-107021200	Strong transcription	Primary B cells from cord blood	blood
22	chr6:107001400-107018600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:107002200-107019000	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr6:107002200-107020200	Weak transcription	Colon Smooth Muscle	Colon
25	chr6:107002200-107020200	Weak transcription	Pancreas	Pancrea
26	chr6:107002400-107023000	Weak transcription	Gastric	stomach
27	chr6:107003800-107019400	Weak transcription	Fetal Muscle Leg	muscle
28	chr6:107005000-107018800	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr6:107005000-107021400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr6:107005000-107021800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:107005200-107019200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr6:107006200-107019800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr6:107006800-107019000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:107008400-107027600	Strong transcription	Primary T cells from cord blood	blood
35	chr6:107008600-107018800	Strong transcription	Dnd41	blood
36	chr6:107010200-107064600	Weak transcription	A549	lung
37	chr6:107010600-107022400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:107010800-107019000	Strong transcription	Primary hematopoietic stem cells	blood
39	chr6:107011400-107018000	Strong transcription	HepG2	liver
40	chr6:107011400-107019400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:107011800-107018000	Weak transcription	Fetal Lung	lung
42	chr6:107011800-107030000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr6:107012000-107020600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr6:107012600-107019000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr6:107012600-107022400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr6:107012800-107030600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr6:107013000-107018600	Strong transcription	Fetal Intestine Large	intestine
48	chr6:107013400-107018000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:107013800-107019000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr6:107014000-107018400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood

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