Variant report

Variant	rs62407529
Chromosome Location	chr6:30315698-30315699
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30315343-30316319	K562	blood:	n/a	n/a
2	POLR2A	chr6:30315588-30316555	HepG2	liver:	n/a	n/a
3	POLR2A	chr6:30315413-30315802	K562	blood:	n/a	n/a
4	POLR2A	chr6:30315665-30315761	MCF-7	breast:	n/a	n/a
5	POLR2A	chr6:30315238-30315765	K562	blood:	n/a	n/a
6	POLR2A	chr6:30315604-30315936	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30178310..30184484-chr6:30311860..30320436,13	MCF-7	breast:
2	chr6:30188017..30189614-chr6:30314561..30316760,2	MCF-7	breast:
3	chr6:30314566..30317004-chr6:30328728..30331075,2	MCF-7	breast:
4	chr6:30314802..30317926-chr6:30329126..30332840,3	MCF-7	breast:
5	chr6:30314848..30317464-chr6:30330567..30333500,2	K562	blood:

No data

Variant related genes	Relation type
HLA-N	TF binding region
ENSG00000234127	Chromatin interaction
ENSG00000236405	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17194467	1.00[AFR][1000 genomes]
rs34823152	1.00[AFR][1000 genomes]
rs56406541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62407528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7453937	1.00[AFR][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	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30313400-30321400	Weak transcription	Spleen	Spleen
2	chr6:30313800-30316400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr6:30313800-30325600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:30314000-30316400	Weak transcription	Adipose Nuclei	Adipose
5	chr6:30314000-30316400	Strong transcription	Thymus	Thymus
6	chr6:30314000-30316800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:30314000-30317200	Weak transcription	Brain Substantia Nigra	brain
8	chr6:30314000-30318000	Weak transcription	Fetal Kidney	kidney
9	chr6:30314000-30318400	Weak transcription	HSMM	muscle
10	chr6:30314000-30319400	Weak transcription	Brain Hippocampus Middle	brain
11	chr6:30314000-30319400	Weak transcription	Colonic Mucosa	Colon
12	chr6:30314000-30323200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:30314000-30323200	Weak transcription	Aorta	Aorta
14	chr6:30314000-30324200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr6:30314000-30325600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:30314200-30315800	Weak transcription	NH-A	brain
17	chr6:30314200-30316000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:30314200-30316000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:30314200-30316000	Strong transcription	Brain Angular Gyrus	brain
20	chr6:30314200-30316200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr6:30314200-30316200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:30314200-30316200	Strong transcription	Fetal Stomach	stomach
23	chr6:30314200-30316200	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr6:30314200-30316400	Strong transcription	Primary T cells from cord blood	blood
25	chr6:30314200-30316600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:30314200-30316800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr6:30314200-30316800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:30314200-30316800	Weak transcription	Small Intestine	intestine
29	chr6:30314200-30316800	Weak transcription	Hela-S3	cervix
30	chr6:30314200-30316800	Weak transcription	NHEK	skin
31	chr6:30314200-30317200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr6:30314200-30318200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr6:30314200-30322200	Weak transcription	Fetal Brain Male	brain
34	chr6:30314200-30323400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr6:30314200-30325600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr6:30314200-30325600	Weak transcription	Psoas Muscle	Psoas
37	chr6:30314400-30315800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:30314400-30315800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:30314400-30315800	Strong transcription	Fetal Intestine Large	intestine
40	chr6:30314400-30316000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:30314400-30316000	Weak transcription	GM12878-XiMat	blood
42	chr6:30314400-30316200	Strong transcription	Fetal Intestine Small	intestine
43	chr6:30314400-30316200	Strong transcription	Fetal Muscle Leg	muscle
44	chr6:30314400-30316400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr6:30314400-30316600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr6:30314400-30316600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr6:30314400-30316600	Strong transcription	Brain Germinal Matrix	brain
48	chr6:30314400-30316600	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr6:30314400-30317000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:30314400-30317000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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