Variant report

Variant	rs3730326
Chromosome Location	chr6:36041707-36041708
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:36041620-36041770	HVMF	connective:	n/a	n/a
2	CTCF	chr6:36041700-36041850	HPAF	blood vessel:	n/a	n/a
3	CTCF	chr6:36041640-36041790	SK-N-SH_RA	brain:	n/a	n/a
4	CTCF	chr6:36041640-36041790	HPAF	blood vessel:	n/a	n/a
5	CTCF	chr6:36041660-36041810	HPF	lung:	n/a	n/a
6	CTCF	chr6:36041680-36041830	GM12871	blood:	n/a	n/a
7	CTCF	chr6:36041700-36041850	HEEpiC	esophagus:	n/a	n/a
8	CTCF	chr6:36041620-36041770	BE2_C	brain:	n/a	n/a
9	CUX1	chr6:36041480-36041902	K562	blood:	n/a	n/a
10	CTCF	chr6:36041660-36041810	HEK293	kidney:	n/a	n/a
11	CTCF	chr6:36041660-36041810	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr6:36041700-36041850	HepG2	liver:	n/a	n/a
13	CTCF	chr6:36041620-36041770	SAEC	small airway:	n/a	n/a
14	CTCF	chr6:36041680-36041830	AG04450	lung:	n/a	n/a
15	SPI1	chr6:36041343-36041716	HL-60	blood:	n/a	n/a
16	CTCF	chr6:36041640-36041790	HVMF	connective:	n/a	n/a
17	CTCF	chr6:36041580-36041730	GM12868	blood:	n/a	n/a
18	GATA3	chr6:36041250-36041859	SK-N-SH	brain:	n/a	n/a
19	ARID3A	chr6:36041627-36041895	HepG2	liver:	n/a	n/a
20	CTCF	chr6:36041580-36041730	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr6:36041700-36041850	GM12873	blood:	n/a	n/a
22	CTCF	chr6:36041640-36041790	GM12864	blood:	n/a	n/a
23	SPI1	chr6:36041311-36041804	HL-60	blood:	n/a	n/a
24	GATA3	chr6:36041205-36041740	SH-SY5Y	brain:	n/a	n/a
25	CTCF	chr6:36041660-36041810	HMF	breast:	n/a	n/a
26	CTCF	chr6:36041660-36041810	BJ	skin:	n/a	n/a
27	CTCF	chr6:36041660-36041810	HMEC	breast:	n/a	n/a
28	CTCF	chr6:36041700-36041850	GM12872	blood:	n/a	n/a
29	CTCF	chr6:36041640-36041790	AG04450	lung:	n/a	n/a
30	CTCF	chr6:36041700-36041850	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr6:36041700-36041850	K562	blood:	n/a	n/a
32	CTCF	chr6:36041680-36041830	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:35994000..35997973-chr6:36041645..36047090,8	K562	blood:
2	chr6:36034762..36037596-chr6:36039909..36042459,2	K562	blood:
3	chr6:36030311..36032282-chr6:36040725..36043319,2	K562	blood:
4	chr6:36039959..36043329-chr6:36045547..36048658,3	K562	blood:
5	chr6:35995115..35997194-chr6:36040155..36042243,2	MCF-7	breast:
6	chr6:36030311..36032609-chr6:36039359..36043319,3	K562	blood:

No data

Variant related genes	Relation type
MAPK14	TF binding region
ENSG00000112062	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10947585	0.81[ASN][1000 genomes]
rs11755358	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11759192	1.00[CEU][hapmap];0.82[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12111171	1.00[CEU][hapmap];0.82[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12662129	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12664440	1.00[CHB][hapmap]
rs12664488	0.81[ASN][1000 genomes]
rs12664506	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12665389	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17707124	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs17713154	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs17714205	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804452	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs851006	0.81[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	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36018200-36050000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:36020400-36047400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:36022000-36088800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:36023000-36047400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:36028200-36046000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:36028200-36046600	Weak transcription	Fetal Stomach	stomach
7	chr6:36028200-36047200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:36028200-36047800	Weak transcription	Brain Germinal Matrix	brain
9	chr6:36028200-36048400	Weak transcription	Fetal Brain Female	brain
10	chr6:36028400-36047400	Weak transcription	Colonic Mucosa	Colon
11	chr6:36028400-36047800	Weak transcription	Lung	lung
12	chr6:36028600-36043800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr6:36028600-36046600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:36028600-36050200	Weak transcription	Spleen	Spleen
15	chr6:36028800-36043200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:36029200-36048000	Weak transcription	NH-A	brain
17	chr6:36029600-36041800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr6:36029600-36043400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:36029600-36047600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr6:36029800-36043800	Weak transcription	HMEC	breast
21	chr6:36030200-36042400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:36030800-36043200	Weak transcription	Fetal Muscle Leg	muscle
23	chr6:36031000-36042600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr6:36032800-36043600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr6:36033000-36046600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:36033200-36043400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr6:36033200-36046800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:36033400-36043400	Weak transcription	Placenta	Placenta
29	chr6:36033400-36044200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:36033400-36045600	Weak transcription	Left Ventricle	heart
31	chr6:36033400-36045600	Weak transcription	Pancreas	Pancrea
32	chr6:36033400-36045600	Weak transcription	Thymus	Thymus
33	chr6:36033400-36047800	Weak transcription	Gastric	stomach
34	chr6:36033400-36048000	Weak transcription	Fetal Brain Male	brain
35	chr6:36033400-36050200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:36033600-36043200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr6:36033600-36048000	Weak transcription	Ovary	ovary
38	chr6:36033800-36043200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:36034400-36048000	Weak transcription	Fetal Kidney	kidney
40	chr6:36034400-36048000	Weak transcription	HSMMtube	muscle
41	chr6:36035000-36044600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr6:36035400-36042200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:36035400-36045600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:36035400-36049400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr6:36035400-36050200	Weak transcription	NHLF	lung
46	chr6:36035600-36043600	Weak transcription	NHEK	skin
47	chr6:36035600-36044600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr6:36035600-36046200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:36035600-36047200	Weak transcription	Brain Angular Gyrus	brain
50	chr6:36035600-36048000	Weak transcription	Brain Inferior Temporal Lobe	brain

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