Variant report

Variant	rs3857566
Chromosome Location	chr6:36818372-36818373
allele	A/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36792882..36794850-chr6:36817375..36819702,2	MCF-7	breast:
2	chr6:36815094..36818441-chr6:36826786..36830432,3	K562	blood:
3	chr6:36732942..36735975-chr6:36816237..36818800,3	MCF-7	breast:
4	chr6:36748604..36750587-chr6:36817056..36819076,2	K562	blood:
5	chr6:36794960..36797017-chr6:36818260..36820420,2	MCF-7	breast:
6	chr6:36818002..36820596-chr6:36841531..36843370,2	K562	blood:
7	chr6:36646643..36648189-chr6:36817431..36818959,2	MCF-7	breast:
8	chr6:36799628..36801268-chr6:36817100..36819975,2	K562	blood:
9	chr6:36803679..36805737-chr6:36818259..36820032,3	K562	blood:
10	chr6:36817709..36820546-chr6:36830678..36833403,3	MCF-7	breast:
11	chr6:36815130..36818530-chr6:36818954..36823604,5	K562	blood:
12	chr6:36816600..36820003-chr6:36855117..36857436,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137168	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1008215	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1062151	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16889215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17314629	0.80[EUR][1000 genomes]
rs6912772	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6915283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6919096	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6938178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:90 , 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	chr6:36809200-36819200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr6:36809800-36818400	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:36811400-36823200	Weak transcription	Esophagus	oesophagus
8	chr6:36813200-36821200	Weak transcription	Brain Hippocampus Middle	brain
9	chr6:36813200-36823200	Weak transcription	Brain Substantia Nigra	brain
10	chr6:36815200-36819200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr6:36815400-36819800	Enhancers	Fetal Muscle Leg	muscle
12	chr6:36815600-36818400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr6:36815600-36819800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr6:36816000-36819000	Enhancers	Fetal Muscle Trunk	muscle
15	chr6:36816000-36819800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr6:36816200-36819000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:36816400-36818800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr6:36816600-36823000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:36816800-36818800	Weak transcription	Ovary	ovary
20	chr6:36816800-36821800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr6:36817000-36818400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr6:36817000-36818800	Weak transcription	Fetal Kidney	kidney
23	chr6:36817000-36819200	Weak transcription	Aorta	Aorta
24	chr6:36817000-36819200	Weak transcription	HSMMtube	muscle
25	chr6:36817000-36819800	Enhancers	Brain Anterior Caudate	brain
26	chr6:36817000-36819800	Weak transcription	HepG2	liver
27	chr6:36817000-36820000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:36817000-36821400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr6:36817000-36823200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr6:36817000-36826200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:36817000-36841400	Weak transcription	Colonic Mucosa	Colon
32	chr6:36817200-36818400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:36817200-36818400	Enhancers	Primary hematopoietic stem cells	blood
34	chr6:36817200-36819000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:36817200-36819600	Weak transcription	Primary T cells from cord blood	blood
36	chr6:36817200-36820000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:36817200-36820400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:36817200-36820400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr6:36817200-36820600	Weak transcription	Brain Germinal Matrix	brain
40	chr6:36817200-36821200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr6:36817200-36823200	Weak transcription	Gastric	stomach
42	chr6:36817200-36823200	Weak transcription	Pancreas	Pancrea
43	chr6:36817200-36823600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr6:36817200-36830200	Weak transcription	Fetal Lung	lung
45	chr6:36817200-36833400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr6:36817200-36841200	Weak transcription	Fetal Brain Male	brain
47	chr6:36817200-36842000	Weak transcription	Stomach Mucosa	stomach
48	chr6:36817400-36818600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:36817400-36818600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:36817400-36818800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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