Variant report

Variant	rs73481393
Chromosome Location	chr6:86281582-86281583
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:86275566..86278674-chr6:86280666..86283504,3	K562	blood:
2	chr6:86272075..86276621-chr6:86278796..86281589,4	K562	blood:
3	chr6:86244360..86246151-chr6:86281101..86282612,2	K562	blood:
4	chr6:86280113..86284148-chr6:86385938..86389543,4	K562	blood:
5	chr6:86281475..86283897-chr6:86288113..86290341,2	K562	blood:
6	chr6:86279748..86283159-chr6:86286791..86290808,4	K562	blood:
7	chr6:86277174..86279687-chr6:86281414..86283504,2	K562	blood:

Variant related genes	Relation type
ENSG00000135317	Chromatin interaction
ENSG00000203875	Chromatin interaction

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

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

rs_ID	r²[population]
rs59846877	0.96[AFR][1000 genomes]
rs73481353	0.96[AFR][1000 genomes]
rs73481358	0.96[AFR][1000 genomes]
rs73481370	0.81[AFR][1000 genomes]
rs73481382	1.00[AFR][1000 genomes]
rs73483570	0.83[AFR][1000 genomes]
rs73485410	0.96[AFR][1000 genomes]
rs73485412	1.00[AFR][1000 genomes]
rs73485413	1.00[AFR][1000 genomes]
rs73485419	0.92[AFR][1000 genomes]
rs73485448	0.82[AFR][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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86208800-86284600	Weak transcription	Small Intestine	intestine
2	chr6:86208800-86289200	Weak transcription	Pancreas	Pancrea
3	chr6:86221800-86285800	Weak transcription	Fetal Brain Male	brain
4	chr6:86222600-86289400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:86223400-86285000	Weak transcription	Brain Substantia Nigra	brain
6	chr6:86224200-86302600	Weak transcription	Colonic Mucosa	Colon
7	chr6:86231200-86285000	Weak transcription	Hela-S3	cervix
8	chr6:86233800-86289200	Weak transcription	Spleen	Spleen
9	chr6:86241400-86283600	Weak transcription	Fetal Kidney	kidney
10	chr6:86243200-86285200	Weak transcription	Psoas Muscle	Psoas
11	chr6:86243200-86286000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr6:86243400-86301400	Weak transcription	Thymus	Thymus
13	chr6:86243600-86285000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:86243600-86285800	Weak transcription	Fetal Brain Female	brain
15	chr6:86243600-86286200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:86243800-86284800	Weak transcription	Brain Angular Gyrus	brain
17	chr6:86244200-86286000	Weak transcription	Right Ventricle	heart
18	chr6:86244200-86289200	Weak transcription	Gastric	stomach
19	chr6:86250200-86284800	Weak transcription	Aorta	Aorta
20	chr6:86252800-86284400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr6:86252800-86289600	Weak transcription	Esophagus	oesophagus
22	chr6:86253400-86286000	Weak transcription	Brain Germinal Matrix	brain
23	chr6:86254800-86287800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr6:86257600-86285200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:86258000-86284800	Weak transcription	Fetal Heart	heart
26	chr6:86258000-86286000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr6:86258400-86284400	Weak transcription	A549	lung
28	chr6:86258600-86283200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr6:86260600-86281600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:86263000-86284600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:86263000-86284800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr6:86263000-86289400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr6:86263000-86289600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr6:86263200-86282200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:86265600-86288200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr6:86265600-86289800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr6:86266400-86290000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:86269200-86283400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr6:86269600-86281800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr6:86270400-86286200	Weak transcription	Brain Anterior Caudate	brain
41	chr6:86272000-86284800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr6:86272000-86290200	Weak transcription	Fetal Muscle Leg	muscle
43	chr6:86272200-86286200	Weak transcription	Colon Smooth Muscle	Colon
44	chr6:86273400-86288000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr6:86274200-86283000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr6:86275200-86286400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr6:86276000-86284800	Weak transcription	Brain Hippocampus Middle	brain
48	chr6:86276000-86285800	Weak transcription	Dnd41	blood
49	chr6:86276800-86281600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr6:86276800-86281600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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