Variant report

Variant	rs62443354
Chromosome Location	chr6:86284680-86284681
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:86276500..86278620-chr6:86283749..86285413,2	K562	blood:
2	chr6:86284643..86286706-chr6:86299863..86303229,3	K562	blood:
3	chr6:86284276..86286183-chr6:86352139..86353781,2	MCF-7	breast:
4	chr6:86260582..86262333-chr6:86283688..86285782,2	K562	blood:

Variant related genes	Relation type
ENSG00000135316	Chromatin interaction
ENSG00000135317	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs62443304	1.00[ASN][1000 genomes]
rs62443330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62443332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62443351	1.00[ASN][1000 genomes]
rs62443355	1.00[ASN][1000 genomes]
rs62443357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62443358	1.00[ASN][1000 genomes]
rs62444966	1.00[ASN][1000 genomes]
rs62444986	1.00[ASN][1000 genomes]
rs62444987	1.00[AFR][1000 genomes]
rs62444988	1.00[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	nsv1022445	chr6:85972678-86392968	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv538349	chr6:85972678-86392968	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	esv3326486	chr6:86020165-86292456	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised 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	15 gene(s)	inside rSNPs	diseases
4	nsv886333	chr6:86199243-86289415	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv886334	chr6:86214507-86394403	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
6	esv1792638	chr6:86224053-86336300	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86208800-86289200	Weak transcription	Pancreas	Pancrea
2	chr6:86221800-86285800	Weak transcription	Fetal Brain Male	brain
3	chr6:86222600-86289400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:86223400-86285000	Weak transcription	Brain Substantia Nigra	brain
5	chr6:86224200-86302600	Weak transcription	Colonic Mucosa	Colon
6	chr6:86231200-86285000	Weak transcription	Hela-S3	cervix
7	chr6:86233800-86289200	Weak transcription	Spleen	Spleen
8	chr6:86243200-86285200	Weak transcription	Psoas Muscle	Psoas
9	chr6:86243200-86286000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr6:86243400-86301400	Weak transcription	Thymus	Thymus
11	chr6:86243600-86285000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:86243600-86285800	Weak transcription	Fetal Brain Female	brain
13	chr6:86243600-86286200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:86243800-86284800	Weak transcription	Brain Angular Gyrus	brain
15	chr6:86244200-86286000	Weak transcription	Right Ventricle	heart
16	chr6:86244200-86289200	Weak transcription	Gastric	stomach
17	chr6:86250200-86284800	Weak transcription	Aorta	Aorta
18	chr6:86252800-86289600	Weak transcription	Esophagus	oesophagus
19	chr6:86253400-86286000	Weak transcription	Brain Germinal Matrix	brain
20	chr6:86254800-86287800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr6:86257600-86285200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:86258000-86284800	Weak transcription	Fetal Heart	heart
23	chr6:86258000-86286000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr6:86263000-86284800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr6:86263000-86289400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:86263000-86289600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:86265600-86288200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr6:86265600-86289800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr6:86266400-86290000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:86270400-86286200	Weak transcription	Brain Anterior Caudate	brain
31	chr6:86272000-86284800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr6:86272000-86290200	Weak transcription	Fetal Muscle Leg	muscle
33	chr6:86272200-86286200	Weak transcription	Colon Smooth Muscle	Colon
34	chr6:86273400-86288000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr6:86275200-86286400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:86276000-86284800	Weak transcription	Brain Hippocampus Middle	brain
37	chr6:86276000-86285800	Weak transcription	Dnd41	blood
38	chr6:86277600-86289200	Weak transcription	Lung	lung
39	chr6:86278200-86302600	Weak transcription	Ovary	ovary
40	chr6:86278400-86284800	Weak transcription	Fetal Lung	lung
41	chr6:86278400-86284800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:86278400-86291400	Weak transcription	Adipose Nuclei	Adipose
43	chr6:86279200-86286200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr6:86279200-86289200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:86280000-86285200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr6:86280000-86301400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr6:86280200-86290200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:86281000-86286000	Weak transcription	Left Ventricle	heart
49	chr6:86281200-86284800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:86281200-86288800	Weak transcription	Fetal Stomach	stomach

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