Variant report

Variant	rs73427555
Chromosome Location	chr6:30317577-30317578
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:30317560-30317710	HA-sp	spinal cord:	n/a	n/a
2	RAD21	chr6:30317575-30317795	SK-N-SH_RA	brain:	n/a	n/a
3	RAD21	chr6:30317527-30317921	HepG2	liver:	n/a	n/a
4	SMC3	chr6:30317575-30317638	GM12878	blood:	n/a	n/a
5	CTCF	chr6:30317569-30317898	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30178310..30184484-chr6:30311860..30320436,13	MCF-7	breast:
2	chr6:30314802..30317926-chr6:30329126..30332840,3	MCF-7	breast:

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]
rs73427550	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:91 , 50 per page) page: 1 2

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	chr6:30314000-30318000	Weak transcription	Fetal Kidney	kidney
4	chr6:30314000-30318400	Weak transcription	HSMM	muscle
5	chr6:30314000-30319400	Weak transcription	Brain Hippocampus Middle	brain
6	chr6:30314000-30319400	Weak transcription	Colonic Mucosa	Colon
7	chr6:30314000-30323200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:30314000-30323200	Weak transcription	Aorta	Aorta
9	chr6:30314000-30324200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:30314000-30325600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:30314200-30318200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:30314200-30322200	Weak transcription	Fetal Brain Male	brain
13	chr6:30314200-30323400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr6:30314200-30325600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:30314200-30325600	Weak transcription	Psoas Muscle	Psoas
16	chr6:30314400-30317600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:30314400-30318000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:30314400-30319200	Weak transcription	Right Ventricle	heart
19	chr6:30314400-30325000	Weak transcription	Esophagus	oesophagus
20	chr6:30314400-30325400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr6:30314600-30325600	Weak transcription	Pancreas	Pancrea
22	chr6:30314800-30319000	Weak transcription	HSMMtube	muscle
23	chr6:30314800-30319400	Weak transcription	NHLF	lung
24	chr6:30315000-30317600	Weak transcription	HUVEC	blood vessel
25	chr6:30315000-30318000	Weak transcription	Fetal Lung	lung
26	chr6:30315000-30318000	Weak transcription	HepG2	liver
27	chr6:30315000-30318200	Weak transcription	Ovary	ovary
28	chr6:30315000-30318800	Weak transcription	HMEC	breast
29	chr6:30315000-30318800	Weak transcription	K562	blood
30	chr6:30315000-30320400	Weak transcription	NHDF-Ad	bronchial
31	chr6:30315000-30323200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr6:30315000-30323400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr6:30315000-30325600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:30315000-30325600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:30315000-30325600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:30315000-30325600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr6:30315200-30317600	Weak transcription	Fetal Brain Female	brain
38	chr6:30315200-30318200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:30315200-30318200	Weak transcription	Liver	Liver
40	chr6:30315200-30318400	Weak transcription	Placenta	Placenta
41	chr6:30315200-30318800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr6:30315200-30320400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:30315200-30323200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:30315400-30318600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr6:30315400-30318600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr6:30315400-30323200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr6:30315600-30318000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr6:30315600-30318000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr6:30315600-30318200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr6:30315600-30318200	Weak transcription	Rectal Mucosa Donor 29	rectum

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