Variant report

Variant	rs6767786
Chromosome Location	chr3:141104180-141104181
allele	A/G
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	POLR2A	chr3:141102275-141108652	GM12892	blood:	n/a	n/a
2	MXI1	chr3:141103587-141107076	SK-N-SH	brain:	n/a	n/a
3	NFIC	chr3:141102247-141106881	GM12878	blood:	n/a	chr3:141104154-141104170
4	POLR2A	chr3:141101616-141105956	IMR90	lung:	n/a	n/a
5	POLR2A	chr3:141103827-141106384	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr3:141102361-141107014	U87	brain:	n/a	n/a
7	MTA3	chr3:141102180-141106932	GM12878	blood:	n/a	n/a
8	CEBPB	chr3:141103927-141104208	HepG2	liver:	n/a	chr3:141104058-141104069
9	NFIC	chr3:141102903-141104221	GM12878	blood:	n/a	chr3:141104154-141104170
10	POLR2A	chr3:141101478-141106905	GM19099	blood:	n/a	n/a
11	POLR2A	chr3:141101516-141106882	GM12878	blood:	n/a	n/a
12	POLR2A	chr3:141104136-141106779	GM12892	blood:	n/a	n/a
13	POLR2A	chr3:141102232-141107020	U87	brain:	n/a	n/a
14	CEBPB	chr3:141103936-141104181	K562	blood:	n/a	chr3:141104058-141104069
15	POLR2A	chr3:141101505-141108266	GM18505	blood:	n/a	n/a
16	POLR2A	chr3:141104159-141106868	GM12892	blood:	n/a	n/a
17	POLR2A	chr3:141104091-141106853	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:141103656..141105219-chr3:141126997..141129386,2	K562	blood:
2	chr3:141086110..141088858-chr3:141103721..141105278,2	MCF-7	breast:
3	chr3:141086746..141089442-chr3:141102578..141106319,5	K562	blood:
4	chr3:141103343..141105459-chr3:141119625..141122357,2	MCF-7	breast:

Variant related genes	Relation type
ZBTB38	TF binding region
ENSG00000177311	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13066993	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13067032	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13068065	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13069734	0.94[EUR][1000 genomes]
rs13091182	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13099193	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2011092	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35225290	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6767899	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6785073	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6789653	0.92[EUR][1000 genomes]
rs6807935	0.90[EUR][1000 genomes]
rs9821337	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9822195	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9822327	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9858603	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][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	nsv829744	chr3:141016749-141189168	Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141087000-141107800	Weak transcription	Pancreas	Pancrea
2	chr3:141088000-141105200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr3:141088400-141107600	Weak transcription	Small Intestine	intestine
4	chr3:141089200-141104800	Strong transcription	Fetal Intestine Large	intestine
5	chr3:141089200-141115800	Weak transcription	Psoas Muscle	Psoas
6	chr3:141089400-141104200	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:141089600-141105600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr3:141091000-141107200	Weak transcription	Liver	Liver
9	chr3:141092000-141105600	Weak transcription	Gastric	stomach
10	chr3:141094600-141104200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr3:141094800-141105600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr3:141094800-141112200	Weak transcription	Spleen	Spleen
13	chr3:141095200-141105600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:141095200-141105800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:141096000-141104400	Weak transcription	Fetal Heart	heart
16	chr3:141096000-141111000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:141096200-141106400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr3:141097200-141105600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr3:141098400-141105800	Weak transcription	Right Ventricle	heart
20	chr3:141098400-141107600	Weak transcription	Aorta	Aorta
21	chr3:141098600-141105200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr3:141098600-141105600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr3:141098600-141115200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:141099000-141110400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:141099200-141104400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr3:141099400-141104400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr3:141099400-141105800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr3:141099400-141106600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr3:141099600-141104800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr3:141099600-141109800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:141099800-141104400	Strong transcription	HepG2	liver
32	chr3:141099800-141104800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr3:141099800-141106800	Strong transcription	Left Ventricle	heart
34	chr3:141100600-141112400	Weak transcription	Lung	lung
35	chr3:141101800-141105400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:141101800-141105800	Genic enhancers	A549	lung
37	chr3:141102000-141105600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr3:141102400-141104200	Flanking Active TSS	Fetal Lung	lung
39	chr3:141102400-141105200	Enhancers	Fetal Stomach	stomach
40	chr3:141102400-141105600	Enhancers	Fetal Kidney	kidney
41	chr3:141102400-141107600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr3:141102600-141104800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr3:141102600-141105600	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr3:141102800-141104600	Enhancers	Adipose Nuclei	Adipose
45	chr3:141102800-141104800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr3:141102800-141105600	Weak transcription	Colonic Mucosa	Colon
47	chr3:141102800-141105800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr3:141102800-141111800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr3:141102800-141112000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr3:141103000-141104200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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