Variant report

Variant	rs11754437
Chromosome Location	chr6:36817521-36817522
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36813097..36817689-chr6:36839602..36844147,5	K562	blood:
2	chr6:36816699..36818320-chr6:36819945..36822001,2	MCF-7	breast:
3	chr6:36811002..36813494-chr6:36814165..36817730,3	MCF-7	breast:
4	chr6:36792882..36794850-chr6:36817375..36819702,2	MCF-7	breast:
5	chr6:36815094..36818441-chr6:36826786..36830432,3	K562	blood:
6	chr6:36732942..36735975-chr6:36816237..36818800,3	MCF-7	breast:
7	chr6:36748604..36750587-chr6:36817056..36819076,2	K562	blood:
8	chr6:36646643..36648189-chr6:36817431..36818959,2	MCF-7	breast:
9	chr6:36799628..36801268-chr6:36817100..36819975,2	K562	blood:
10	chr6:36763852..36766852-chr6:36816015..36817919,3	K562	blood:
11	chr6:36808554..36811671-chr6:36814361..36817752,3	MCF-7	breast:
12	chr6:36815130..36818530-chr6:36818954..36823604,5	K562	blood:
13	chr6:36816600..36820003-chr6:36855117..36857436,3	K562	blood:
14	chr6:36746898..36749135-chr6:36816606..36818141,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198663	Chromatin interaction
ENSG00000137168	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11751790	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11751844	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11756425	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11758600	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11758807	0.89[EUR][1000 genomes]
rs12661551	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12664239	0.92[ASN][1000 genomes]
rs2071822	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2071823	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293394	0.84[ASN][1000 genomes]
rs28673271	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4711470	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4711471	0.81[ASN][1000 genomes]
rs4711472	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4714015	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4714019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4714020	0.92[ASN][1000 genomes]
rs60097056	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62406642	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62406644	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6900068	0.83[ASN][1000 genomes]
rs6910582	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6912602	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6912891	0.92[ASN][1000 genomes]
rs6913047	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72846083	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9349015	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9349017	0.83[ASN][1000 genomes]
rs9357229	0.92[ASN][1000 genomes]
rs9368963	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9368964	0.91[EUR][1000 genomes]
rs9368965	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9380607	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9380614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9394387	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1033261	chr6:36687424-36837315	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv5262	chr6:36799329-36826210	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36808600-36818800	Weak transcription	Dnd41	blood
2	chr6:36809000-36818600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:36809000-36820200	Weak transcription	Thymus	Thymus
4	chr6:36809000-36823000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:36809200-36818000	Weak transcription	HSMM	muscle
6	chr6:36809200-36819200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr6:36809800-36818400	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:36811400-36823200	Weak transcription	Esophagus	oesophagus
9	chr6:36813200-36821200	Weak transcription	Brain Hippocampus Middle	brain
10	chr6:36813200-36823200	Weak transcription	Brain Substantia Nigra	brain
11	chr6:36814200-36817600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr6:36815200-36819200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr6:36815400-36819800	Enhancers	Fetal Muscle Leg	muscle
14	chr6:36815600-36818400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:36815600-36819800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr6:36815800-36817600	Enhancers	Fetal Intestine Large	intestine
17	chr6:36816000-36817600	Bivalent Enhancer	Fetal Stomach	stomach
18	chr6:36816000-36818200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr6:36816000-36818200	Enhancers	Fetal Thymus	thymus
20	chr6:36816000-36818200	Enhancers	HUVEC	blood vessel
21	chr6:36816000-36819000	Enhancers	Fetal Muscle Trunk	muscle
22	chr6:36816000-36819800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr6:36816200-36819000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:36816400-36817600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:36816400-36818000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:36816400-36818800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr6:36816600-36818000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr6:36816600-36818000	Enhancers	Placenta Amnion	Placenta Amnion
29	chr6:36816600-36823000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:36816800-36817600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr6:36816800-36818200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr6:36816800-36818800	Weak transcription	Ovary	ovary
33	chr6:36816800-36821800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr6:36817000-36817600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:36817000-36817600	Enhancers	NHEK	skin
36	chr6:36817000-36817800	Enhancers	Placenta	Placenta
37	chr6:36817000-36818000	Weak transcription	Left Ventricle	heart
38	chr6:36817000-36818200	Weak transcription	Right Atrium	heart
39	chr6:36817000-36818400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr6:36817000-36818800	Weak transcription	Fetal Kidney	kidney
41	chr6:36817000-36819200	Weak transcription	Aorta	Aorta
42	chr6:36817000-36819200	Weak transcription	HSMMtube	muscle
43	chr6:36817000-36819800	Enhancers	Brain Anterior Caudate	brain
44	chr6:36817000-36819800	Weak transcription	HepG2	liver
45	chr6:36817000-36820000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:36817000-36821400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr6:36817000-36823200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr6:36817000-36826200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:36817000-36841400	Weak transcription	Colonic Mucosa	Colon
50	chr6:36817200-36817600	Enhancers	H1 Cell Line	embryonic stem cell

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