Variant report

Variant	rs6862016
Chromosome Location	chr5:127535717-127535718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127534536..127536383-chr5:127537068..127539513,2	K562	blood:
2	chr5:127417598..127420505-chr5:127534164..127537031,3	MCF-7	breast:
3	chr5:127531533..127534048-chr5:127534783..127536987,2	K562	blood:
4	chr5:127531948..127534863-chr5:127535374..127538007,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245937	Chromatin interaction
ENSG00000064651	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10067006	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10074832	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10213931	1.00[AMR][1000 genomes]
rs10478804	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17164360	0.87[MKK][hapmap]
rs17839661	1.00[AMR][1000 genomes]
rs7721945	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127441200-127536800	Weak transcription	Colonic Mucosa	Colon
2	chr5:127468000-127536800	Weak transcription	Fetal Brain Female	brain
3	chr5:127485000-127536800	Weak transcription	Colon Smooth Muscle	Colon
4	chr5:127490800-127536600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:127494400-127536800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:127500400-127536800	Weak transcription	NHEK	skin
7	chr5:127504600-127536800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:127516400-127536800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:127521200-127537200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:127522600-127536800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr5:127522600-127536800	Weak transcription	Brain Angular Gyrus	brain
12	chr5:127522600-127536800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr5:127522600-127536800	Weak transcription	Fetal Kidney	kidney
14	chr5:127522800-127536400	Weak transcription	Brain Substantia Nigra	brain
15	chr5:127522800-127536600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:127522800-127536600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:127522800-127536800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:127523000-127536800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:127523000-127536800	Weak transcription	Adipose Nuclei	Adipose
20	chr5:127523000-127536800	Weak transcription	Brain Anterior Caudate	brain
21	chr5:127526200-127536600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:127526200-127536800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:127527000-127536800	Weak transcription	Brain Hippocampus Middle	brain
24	chr5:127527000-127536800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:127529600-127536600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr5:127530000-127535800	Weak transcription	Primary B cells from cord blood	blood
27	chr5:127530000-127536800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr5:127530000-127536800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:127530000-127536800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr5:127530000-127537000	Weak transcription	Aorta	Aorta
31	chr5:127530000-127537200	Weak transcription	HSMMtube	muscle
32	chr5:127532800-127536600	Weak transcription	Fetal Heart	heart
33	chr5:127532800-127536800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr5:127533000-127536800	Weak transcription	K562	blood
35	chr5:127533400-127536800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr5:127533400-127537000	Weak transcription	Ovary	ovary
37	chr5:127533400-127537000	Weak transcription	NHLF	lung
38	chr5:127533600-127536600	Weak transcription	Fetal Thymus	thymus
39	chr5:127533800-127536000	Weak transcription	Stomach Mucosa	stomach
40	chr5:127534000-127536600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:127534000-127536600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:127534000-127536800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr5:127534000-127537000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:127534200-127536600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr5:127534200-127536600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr5:127534200-127536800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr5:127534400-127536200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:127534600-127535800	Enhancers	HMEC	breast
49	chr5:127534600-127536400	Weak transcription	Dnd41	blood
50	chr5:127534600-127536600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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