Variant report

Variant	rs73427550
Chromosome Location	chr6:30316676-30316677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr6:30316544-30317376	GM12878	blood:	n/a	n/a
2	EP300	chr6:30316649-30316975	GM12878	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: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11961294	0.85[ASN][1000 genomes]
rs11970259	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1264579	0.85[AFR][1000 genomes]
rs17188268	0.85[ASN][1000 genomes]
rs17195173	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3094060	0.85[ASN][1000 genomes]
rs3094061	0.85[ASN][1000 genomes]
rs3094627	0.85[ASN][1000 genomes]
rs3130374	0.85[ASN][1000 genomes]
rs3130375	0.85[ASN][1000 genomes]
rs3132649	0.85[ASN][1000 genomes]
rs56267944	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56794784	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58065720	0.85[ASN][1000 genomes]
rs59152891	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59979159	0.85[ASN][1000 genomes]
rs61389055	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6915913	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73425422	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73425423	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73425443	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73427516	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73427555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73726125	0.85[ASN][1000 genomes]
rs73726808	0.96[AFR][1000 genomes]
rs7770049	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30313400-30321400	Weak transcription	Spleen	Spleen
2	chr6:30313800-30325600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:30314000-30316800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr6:30314000-30317200	Weak transcription	Brain Substantia Nigra	brain
5	chr6:30314000-30318000	Weak transcription	Fetal Kidney	kidney
6	chr6:30314000-30318400	Weak transcription	HSMM	muscle
7	chr6:30314000-30319400	Weak transcription	Brain Hippocampus Middle	brain
8	chr6:30314000-30319400	Weak transcription	Colonic Mucosa	Colon
9	chr6:30314000-30323200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:30314000-30323200	Weak transcription	Aorta	Aorta
11	chr6:30314000-30324200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr6:30314000-30325600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:30314200-30316800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr6:30314200-30316800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:30314200-30316800	Weak transcription	Small Intestine	intestine
16	chr6:30314200-30316800	Weak transcription	Hela-S3	cervix
17	chr6:30314200-30316800	Weak transcription	NHEK	skin
18	chr6:30314200-30317200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr6:30314200-30318200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:30314200-30322200	Weak transcription	Fetal Brain Male	brain
21	chr6:30314200-30323400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:30314200-30325600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr6:30314200-30325600	Weak transcription	Psoas Muscle	Psoas
24	chr6:30314400-30317000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:30314400-30317000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:30314400-30317600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:30314400-30318000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:30314400-30319200	Weak transcription	Right Ventricle	heart
29	chr6:30314400-30325000	Weak transcription	Esophagus	oesophagus
30	chr6:30314400-30325400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr6:30314600-30316800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr6:30314600-30325600	Weak transcription	Pancreas	Pancrea
33	chr6:30314800-30319000	Weak transcription	HSMMtube	muscle
34	chr6:30314800-30319400	Weak transcription	NHLF	lung
35	chr6:30315000-30316800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr6:30315000-30316800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:30315000-30316800	Weak transcription	Fetal Thymus	thymus
38	chr6:30315000-30317000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:30315000-30317000	Weak transcription	Lung	lung
40	chr6:30315000-30317200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr6:30315000-30317600	Weak transcription	HUVEC	blood vessel
42	chr6:30315000-30318000	Weak transcription	Fetal Lung	lung
43	chr6:30315000-30318000	Weak transcription	HepG2	liver
44	chr6:30315000-30318200	Weak transcription	Ovary	ovary
45	chr6:30315000-30318800	Weak transcription	HMEC	breast
46	chr6:30315000-30318800	Weak transcription	K562	blood
47	chr6:30315000-30320400	Weak transcription	NHDF-Ad	bronchial
48	chr6:30315000-30323200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:30315000-30323400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr6:30315000-30325600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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