Variant report

Variant	rs6777731
Chromosome Location	chr3:49448818-49448819
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	SIN3AK20	chr3:49448787-49449412	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr3:49448142-49450226	GM12878	blood:	n/a	n/a
3	ELF1	chr3:49448782-49450250	GM12878	blood:	n/a	chr3:49448906-49448918 chr3:49449046-49449055 chr3:49449086-49449098
4	WRNIP1	chr3:49448480-49448988	GM12878	blood:	n/a	n/a
5	ELF1	chr3:49448715-49450082	GM12878	blood:	n/a	chr3:49448906-49448918 chr3:49449046-49449055 chr3:49449086-49449098
6	MAX	chr3:49448496-49450106	Hela-S3	cervix:	n/a	chr3:49448867-49448876 chr3:49448924-49448934 chr3:49449585-49449594
7	MYC	chr3:49448711-49450074	NB4	blood:	n/a	chr3:49448867-49448876 chr3:49448924-49448934 chr3:49449585-49449594
8	POLR2A	chr3:49448803-49450072	K562	blood:	n/a	n/a
9	TAF1	chr3:49448701-49450242	ECC-1	luminal epithelium:	n/a	n/a
10	MAZ	chr3:49448615-49450630	IMR90	lung:	n/a	chr3:49450267-49450276 chr3:49448867-49448876 chr3:49448924-49448934 chr3:49449585-49449594
11	TAF1	chr3:49448800-49449028	K562	blood:	n/a	n/a
12	POLR2A	chr3:49448687-49450851	GM12878	blood:	n/a	n/a
13	RAD21	chr3:49448785-49449184	H1-hESC	embryonic stem cell:	n/a	chr3:49449138-49449152
14	CUX1	chr3:49448301-49448829	K562	blood:	n/a	chr3:49448775-49448784 chr3:49448496-49448505
15	POLR2A	chr3:49448751-49450032	K562	blood:	n/a	n/a
16	TAF1	chr3:49448591-49450306	ECC-1	luminal epithelium:	n/a	n/a
17	MAZ	chr3:49448807-49450060	K562	blood:	n/a	chr3:49448867-49448876 chr3:49448924-49448934 chr3:49449585-49449594
18	ZBTB7A	chr3:49448809-49449273	K562	blood:	n/a	n/a
19	UBTF	chr3:49448716-49450222	K562	blood:	n/a	n/a
20	POLR2A	chr3:49448779-49450654	ECC-1	luminal epithelium:	n/a	n/a
21	HEY1	chr3:49448801-49450198	HepG2	liver:	n/a	chr3:49449284-49449299 chr3:49449051-49449066 chr3:49449218-49449233 chr3:49448974-49448989
22	HDAC2	chr3:49448697-49449055	H1-hESC	embryonic stem cell:	n/a	chr3:49448767-49448775
23	POLR2A	chr3:49448786-49450608	GM12878	blood:	n/a	n/a
24	RELA	chr3:49448803-49450091	GM12891	blood:	n/a	n/a
25	HCFC1	chr3:49448164-49450849	Hela-S3	cervix:	n/a	n/a
26	SIN3AK20	chr3:49448767-49450152	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr3:49448595-49451034	HUVEC	blood vessel:	n/a	n/a
28	TAF1	chr3:49448806-49450156	HepG2	liver:	n/a	n/a
29	YY1	chr3:49448783-49450164	GM12878	blood:	n/a	chr3:49449053-49449067
30	TAF1	chr3:49448812-49449966	H1-hESC	embryonic stem cell:	n/a	n/a
31	TCF12	chr3:49448649-49450220	ECC-1	luminal epithelium:	n/a	n/a
32	MAX	chr3:49448686-49450133	K562	blood:	n/a	chr3:49448867-49448876 chr3:49448924-49448934 chr3:49449585-49449594
33	YY1	chr3:49448763-49450079	K562	blood:	n/a	chr3:49449053-49449067
34	BACH1	chr3:49448799-49448994	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr3:49448779-49450276	Hela-S3	cervix:	n/a	n/a
36	MAX	chr3:49448662-49450096	GM12878	blood:	n/a	chr3:49448867-49448876 chr3:49448924-49448934 chr3:49449585-49449594
37	POLR2A	chr3:49448747-49450325	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr3:49448737-49450279	K562	blood:	n/a	n/a
39	IRF1	chr3:49448740-49450065	K562	blood:	n/a	chr3:49449554-49449565 chr3:49449568-49449577 chr3:49449553-49449565
40	UBTF	chr3:49448765-49449424	K562	blood:	n/a	n/a
41	YY1	chr3:49448712-49450251	GM12878	blood:	n/a	chr3:49449053-49449067
42	CHD1	chr3:49448648-49450470	GM12878	blood:	n/a	n/a
43	HA-E2F1	chr3:49448778-49449619	Hela-S3	cervix:	n/a	chr3:49448935-49448945 chr3:49449223-49449233 chr3:49449062-49449071
44	MAX	chr3:49448768-49450186	A549	lung:	n/a	chr3:49448867-49448876 chr3:49448924-49448934 chr3:49449585-49449594
45	CHD2	chr3:49448788-49450321	GM12878	blood:	n/a	n/a
46	POLR2A	chr3:49448292-49450804	IMR90	lung:	n/a	n/a
47	ELF1	chr3:49448804-49449390	K562	blood:	n/a	chr3:49448906-49448918 chr3:49449046-49449055 chr3:49449086-49449098
48	POLR2A	chr3:49448395-49450585	PBDE	blood:	n/a	n/a
49	GABPA	chr3:49448803-49449457	K562	blood:	n/a	chr3:49449062-49449071 chr3:49449082-49449091
50	PML	chr3:49448795-49450253	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:49447135..49449560-chr3:49709671..49711727,2	K562	blood:
2	chr3:49387350..49389031-chr3:49446931..49448922,3	K562	blood:
3	chr3:49375112..49379681-chr3:49446166..49452291,17	K562	blood:
4	chr1:203273833..203274725-chr3:49448811..49449575,2	Hela-S3	cervix:
5	chr3:49203572..49205247-chr3:49448132..49451113,3	MCF-7	breast:
6	chr3:49064721..49066912-chr3:49446904..49449709,2	K562	blood:
7	chr18:34408384..34409350-chr3:49448817..49449443,2	Hela-S3	cervix:
8	chr3:49394592..49396828-chr3:49447365..49450223,2	K562	blood:
9	chr3:49448736..49451146-chr3:49507489..49509395,2	MCF-7	breast:
10	chr3:49130018..49132497-chr3:49447157..49449829,4	K562	blood:
11	chr3:49447402..49451449-chr3:49505916..49509646,7	K562	blood:
12	chr3:49448668..49451033-chr3:49723995..49726731,2	MCF-7	breast:
13	chr3:49377155..49378069-chr3:49448666..49449475,2	K562	blood:
14	chr3:49058292..49060438-chr3:49448532..49450849,2	MCF-7	breast:
15	chr3:49375789..49379333-chr3:49446166..49450939,13	K562	blood:
16	chr3:49424540..49427374-chr3:49447605..49449353,2	MCF-7	breast:
17	chr3:49448236..49450769-chr3:49505936..49509558,3	MCF-7	breast:
18	chr3:49377084..49379212-chr3:49447955..49450362,2	MCF-7	breast:
19	chr3:49054710..49056578-chr3:49447542..49450495,2	K562	blood:
20	chr3:49447402..49452044-chr3:49506038..49509646,9	K562	blood:
21	chr3:49129916..49132990-chr3:49447157..49451022,6	K562	blood:
22	chr3:49447469..49451415-chr3:49463621..49468909,12	K562	blood:

Variant related genes	Relation type
TCTA	TF binding region
ENSG00000159388	Chromatin interaction
ENSG00000178149	Chromatin interaction
ENSG00000145029	Chromatin interaction
ENSG00000134779	Chromatin interaction
ENSG00000198218	Chromatin interaction
ENSG00000177352	Chromatin interaction
ENSG00000150477	Chromatin interaction
ENSG00000272434	Chromatin interaction
ENSG00000114316	Chromatin interaction
ENSG00000173402	Chromatin interaction
ENSG00000173531	Chromatin interaction
ENSG00000178057	Chromatin interaction
ENSG00000164062	Chromatin interaction
ENSG00000233276	Chromatin interaction
ENSG00000178035	Chromatin interaction
ENSG00000233791	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs34379671	1.00[AMR][1000 genomes]
rs6446261	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6772424	1.00[AMR][1000 genomes]
rs6800591	1.00[AMR][1000 genomes]
rs6806073	1.00[AMR][1000 genomes]
rs6808633	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7623582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7626820	1.00[AMR][1000 genomes]
rs7633189	1.00[AMR][1000 genomes]
rs7636222	1.00[AMR][1000 genomes]
rs7641976	1.00[AMR][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	nsv834687	chr3:49448632-49631788	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49446000-49450200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:49446800-49450400	Active TSS	NHLF	lung
3	chr3:49447000-49450200	Active TSS	HSMMtube	muscle
4	chr3:49447000-49450400	Active TSS	Ovary	ovary
5	chr3:49447000-49450600	Active TSS	Aorta	Aorta
6	chr3:49447200-49449400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr3:49447200-49449800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:49447200-49450400	Active TSS	Left Ventricle	heart
9	chr3:49447400-49449800	Active TSS	Fetal Muscle Trunk	muscle
10	chr3:49447400-49450200	Active TSS	Lung	lung
11	chr3:49447400-49450400	Active TSS	H9 Cell Line	embryonic stem cell
12	chr3:49447600-49449000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr3:49447600-49450200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:49447600-49450400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr3:49447600-49450400	Active TSS	Right Ventricle	heart
16	chr3:49447600-49450400	Active TSS	A549	lung
17	chr3:49447600-49450600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:49447800-49449000	Active TSS	Stomach Mucosa	stomach
19	chr3:49447800-49449200	Active TSS	Right Atrium	heart
20	chr3:49447800-49449800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr3:49447800-49450000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:49447800-49450000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr3:49447800-49450000	Active TSS	Fetal Thymus	thymus
24	chr3:49447800-49450200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:49447800-49450200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:49447800-49450200	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr3:49447800-49450200	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr3:49447800-49450400	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr3:49447800-49450400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:49447800-49450400	Active TSS	Fetal Kidney	kidney
31	chr3:49447800-49450400	Active TSS	Placenta Amnion	Placenta Amnion
32	chr3:49447800-49450400	Active TSS	GM12878-XiMat	blood
33	chr3:49447800-49450400	Active TSS	NHDF-Ad	bronchial
34	chr3:49448000-49449400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr3:49448000-49449800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:49448000-49449800	Active TSS	Colonic Mucosa	Colon
37	chr3:49448000-49450000	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr3:49448000-49450000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:49448000-49450000	Active TSS	Brain Germinal Matrix	brain
40	chr3:49448000-49450200	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr3:49448000-49450200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:49448000-49450200	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr3:49448000-49450200	Active TSS	Muscle Satellite Cultured Cells	--
44	chr3:49448000-49450200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr3:49448000-49450200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:49448000-49450200	Active TSS	Fetal Intestine Large	intestine
47	chr3:49448000-49450200	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr3:49448000-49450200	Active TSS	Placenta	Placenta
49	chr3:49448000-49450200	Active TSS	Thymus	Thymus
50	chr3:49448000-49450200	Active TSS	Hela-S3	cervix

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