Variant report

Variant	rs9443631
Chromosome Location	chr6:79664118-79664119
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	chr6:79662478..79664305-chr6:79670719..79673120,2	MCF-7	breast:
2	chr6:79654888..79657549-chr6:79663187..79666105,2	K562	blood:

Variant related genes	Relation type
ENSG00000251969	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs17741785	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2202658	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2202663	0.96[AMR][1000 genomes]
rs56159137	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs66511207	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72890022	0.89[EUR][1000 genomes]
rs72890023	0.92[EUR][1000 genomes]
rs72902825	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72902838	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72902878	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72902895	0.92[EUR][1000 genomes]
rs7454053	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7738062	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7751422	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9443624	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9443633	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9443636	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9443640	0.94[EUR][1000 genomes]
rs9448576	0.96[AMR][1000 genomes]
rs9448586	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9448595	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9448603	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9448617	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs9448624	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9688399	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015352	chr6:79521820-79757024	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv830705	chr6:79659297-79829530	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79648000-79681200	Strong transcription	Primary T helper cells fromperipheralblood	blood
2	chr6:79648800-79714400	Weak transcription	Gastric	stomach
3	chr6:79649000-79666200	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr6:79649000-79715200	Weak transcription	Stomach Mucosa	stomach
5	chr6:79649600-79681400	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr6:79650400-79666200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:79655400-79666000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:79658000-79664600	Strong transcription	Skeletal Muscle Male	skeletal muscle
9	chr6:79658000-79665400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:79658400-79664800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:79658600-79665400	Strong transcription	Osteobl	bone
12	chr6:79658600-79695000	Weak transcription	Pancreas	Pancrea
13	chr6:79658800-79664600	Strong transcription	Fetal Kidney	kidney
14	chr6:79658800-79681200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:79659000-79680000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:79659200-79664800	Strong transcription	Colon Smooth Muscle	Colon
17	chr6:79659200-79665800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:79659200-79674600	Weak transcription	NHLF	lung
19	chr6:79659200-79680600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:79659200-79681400	Strong transcription	Adipose Nuclei	Adipose
21	chr6:79659200-79702800	Weak transcription	Psoas Muscle	Psoas
22	chr6:79659400-79664400	Strong transcription	Brain Germinal Matrix	brain
23	chr6:79659400-79664400	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr6:79659400-79665800	Strong transcription	HUVEC	blood vessel
25	chr6:79659400-79666200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:79659400-79666200	Strong transcription	Duodenum Mucosa	Duodenum
27	chr6:79659400-79672600	Weak transcription	Brain Angular Gyrus	brain
28	chr6:79659400-79674400	Weak transcription	Colonic Mucosa	Colon
29	chr6:79659400-79675000	Weak transcription	NHEK	skin
30	chr6:79659400-79680400	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:79659400-79680600	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr6:79659400-79681200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr6:79659400-79681200	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr6:79659400-79681200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:79659400-79702400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:79659400-79707000	Weak transcription	Esophagus	oesophagus
37	chr6:79659600-79664600	Strong transcription	Fetal Brain Female	brain
38	chr6:79659600-79665000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr6:79659600-79665000	Strong transcription	HMEC	breast
40	chr6:79659600-79666000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:79659600-79666000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:79659600-79676200	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr6:79659600-79680600	Strong transcription	Primary T cells from cord blood	blood
44	chr6:79659600-79681000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:79659600-79681200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr6:79659600-79704000	Weak transcription	Lung	lung
47	chr6:79659600-79707000	Weak transcription	Spleen	Spleen
48	chr6:79659800-79664400	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr6:79659800-79665600	Strong transcription	Placenta	Placenta
50	chr6:79659800-79666000	Strong transcription	HUES6 Cell Line	embryonic stem cell

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