Variant report

Variant	rs56812420
Chromosome Location	chr6:30318186-30318187
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	SPI1	chr6:30318085-30318336	GM12891	blood:	n/a	n/a
2	SPI1	chr6:30318022-30318432	HL-60	blood:	n/a	n/a
3	CTCF	chr6:30317980-30318230	GM06990	blood:	n/a	n/a
4	ARID3A	chr6:30318142-30318250	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:

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

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10484551	0.86[ASN][1000 genomes]
rs16897337	0.86[ASN][1000 genomes]
rs16897339	0.86[ASN][1000 genomes]
rs17188212	0.85[ASN][1000 genomes]
rs17194565	0.85[ASN][1000 genomes]
rs17194767	0.86[ASN][1000 genomes]
rs2021363	0.86[ASN][1000 genomes]
rs2021364	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2285794	0.86[ASN][1000 genomes]
rs2285799	0.86[ASN][1000 genomes]
rs2894146	0.86[ASN][1000 genomes]
rs3094070	0.86[ASN][1000 genomes]
rs3094071	0.86[ASN][1000 genomes]
rs3094072	0.86[ASN][1000 genomes]
rs3094073	0.86[ASN][1000 genomes]
rs3094074	0.86[ASN][1000 genomes]
rs3094077	0.86[ASN][1000 genomes]
rs3094630	0.86[ASN][1000 genomes]
rs3094632	0.86[ASN][1000 genomes]
rs3129697	0.86[ASN][1000 genomes]
rs3129699	0.86[ASN][1000 genomes]
rs3129700	0.86[ASN][1000 genomes]
rs3129701	0.86[ASN][1000 genomes]
rs3129702	0.86[ASN][1000 genomes]
rs3129703	0.81[ASN][1000 genomes]
rs3129705	0.86[ASN][1000 genomes]
rs3129706	0.86[ASN][1000 genomes]
rs3129707	0.86[ASN][1000 genomes]
rs3129708	0.86[ASN][1000 genomes]
rs3129831	0.86[ASN][1000 genomes]
rs3129832	0.86[ASN][1000 genomes]
rs3129835	0.86[ASN][1000 genomes]
rs3130398	0.86[ASN][1000 genomes]
rs3130400	0.86[ASN][1000 genomes]
rs3130401	0.86[ASN][1000 genomes]
rs3130403	0.86[ASN][1000 genomes]
rs3130404	0.86[ASN][1000 genomes]
rs3132655	0.86[ASN][1000 genomes]
rs3132656	0.86[ASN][1000 genomes]
rs3132657	0.86[ASN][1000 genomes]
rs3132658	0.86[ASN][1000 genomes]
rs3132659	0.86[ASN][1000 genomes]
rs3778625	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3800332	0.86[ASN][1000 genomes]
rs4711210	0.85[ASN][1000 genomes]
rs4711212	0.86[ASN][1000 genomes]
rs4713302	0.85[ASN][1000 genomes]
rs4713304	0.86[ASN][1000 genomes]
rs4713306	0.86[ASN][1000 genomes]
rs4713309	0.86[ASN][1000 genomes]
rs4713310	0.92[ASN][1000 genomes]
rs4713311	0.86[ASN][1000 genomes]
rs4713312	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4713313	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4713314	0.86[ASN][1000 genomes]
rs56707099	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56725475	0.86[ASN][1000 genomes]
rs56847466	0.86[ASN][1000 genomes]
rs57686281	0.85[ASN][1000 genomes]
rs57708012	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs57715221	0.86[ASN][1000 genomes]
rs58226684	0.86[ASN][1000 genomes]
rs59046803	0.86[ASN][1000 genomes]
rs60925525	0.86[ASN][1000 genomes]
rs61017790	0.86[ASN][1000 genomes]
rs61619108	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9261629	0.86[ASN][1000 genomes]
rs9261630	0.86[ASN][1000 genomes]
rs9261636	0.86[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:80 , 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	chr6:30314000-30318400	Weak transcription	HSMM	muscle
4	chr6:30314000-30319400	Weak transcription	Brain Hippocampus Middle	brain
5	chr6:30314000-30319400	Weak transcription	Colonic Mucosa	Colon
6	chr6:30314000-30323200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:30314000-30323200	Weak transcription	Aorta	Aorta
8	chr6:30314000-30324200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr6:30314000-30325600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:30314200-30318200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:30314200-30322200	Weak transcription	Fetal Brain Male	brain
12	chr6:30314200-30323400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:30314200-30325600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:30314200-30325600	Weak transcription	Psoas Muscle	Psoas
15	chr6:30314400-30319200	Weak transcription	Right Ventricle	heart
16	chr6:30314400-30325000	Weak transcription	Esophagus	oesophagus
17	chr6:30314400-30325400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:30314600-30325600	Weak transcription	Pancreas	Pancrea
19	chr6:30314800-30319000	Weak transcription	HSMMtube	muscle
20	chr6:30314800-30319400	Weak transcription	NHLF	lung
21	chr6:30315000-30318200	Weak transcription	Ovary	ovary
22	chr6:30315000-30318800	Weak transcription	HMEC	breast
23	chr6:30315000-30318800	Weak transcription	K562	blood
24	chr6:30315000-30320400	Weak transcription	NHDF-Ad	bronchial
25	chr6:30315000-30323200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:30315000-30323400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr6:30315000-30325600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:30315000-30325600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:30315000-30325600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:30315000-30325600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr6:30315200-30318200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:30315200-30318200	Weak transcription	Liver	Liver
33	chr6:30315200-30318400	Weak transcription	Placenta	Placenta
34	chr6:30315200-30318800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr6:30315200-30320400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:30315200-30323200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:30315400-30318600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr6:30315400-30318600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr6:30315400-30323200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr6:30315600-30318200	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr6:30315600-30318200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr6:30315600-30318200	Weak transcription	A549	lung
43	chr6:30315600-30318400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr6:30315600-30318600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:30315600-30318600	Weak transcription	Brain Anterior Caudate	brain
46	chr6:30315600-30318800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr6:30315600-30318800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr6:30315600-30318800	Weak transcription	Dnd41	blood
49	chr6:30315600-30319000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:30315600-30320200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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