Variant report

Variant	rs555791214
Chromosome Location	chr1:209942450-209942451
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	chr1:209941568-209945214	GM18951	blood:	n/a	n/a
2	RUNX3	chr1:209942415-209943297	GM12878	blood:	n/a	n/a
3	MAX	chr1:209941095-209944027	NB4	blood:	n/a	chr1:209943038-209943048 chr1:209943557-209943567
4	POLR2A	chr1:209941537-209945106	GM12892	blood:	n/a	n/a
5	CHD1	chr1:209941419-209943686	GM12878	blood:	n/a	n/a
6	EP300	chr1:209942216-209943822	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr1:209940700-209952492	GM12891	blood:	n/a	n/a
8	RCOR1	chr1:209941534-209943537	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:209941681-209942476	GM12878	blood:	n/a	n/a
10	TCF12	chr1:209942145-209943901	SK-N-SH	brain:	n/a	chr1:209943560-209943570
11	POLR2A	chr1:209941560-209945629	GM12878	blood:	n/a	n/a
12	EP300	chr1:209942161-209943660	SK-N-SH	brain:	n/a	n/a
13	MEF2A	chr1:209942334-209943787	SK-N-SH	brain:	n/a	chr1:209942839-209942854 chr1:209942838-209942859 chr1:209942840-209942854
14	EP300	chr1:209942218-209943867	SK-N-SH	brain:	n/a	n/a
15	MAZ	chr1:209941196-209943615	GM12878	blood:	n/a	chr1:209943038-209943048 chr1:209943557-209943567
16	NFATC1	chr1:209942405-209943549	GM12878	blood:	n/a	n/a
17	PML	chr1:209941415-209943747	GM12878	blood:	n/a	chr1:209941743-209941751
18	MTA3	chr1:209941494-209944028	GM12878	blood:	n/a	n/a
19	POLR2A	chr1:209941574-209945063	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:209941567-209945023	GM18526	blood:	n/a	n/a
21	FOSL2	chr1:209942420-209943674	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr1:209941117-209946709	GM18505	blood:	n/a	n/a
23	MAX	chr1:209942433-209943229	SK-N-SH	brain:	n/a	chr1:209943038-209943048
24	POLR2A	chr1:209942381-209945631	GM12892	blood:	n/a	n/a
25	GATA3	chr1:209942300-209943875	SK-N-SH	brain:	n/a	chr1:209942977-209942987
26	NFIC	chr1:209942017-209943748	SK-N-SH	brain:	n/a	n/a
27	FOXM1	chr1:209942437-209943725	SK-N-SH	brain:	n/a	n/a
28	FOXM1	chr1:209942195-209943427	SK-N-SH	brain:	n/a	n/a
29	PBX3	chr1:209942340-209943766	SK-N-SH	brain:	n/a	n/a
30	NFIC	chr1:209942340-209943382	GM12878	blood:	n/a	n/a
31	EP300	chr1:209941614-209943204	GM12878	blood:	n/a	chr1:209941759-209941773
32	MAX	chr1:209941503-209943185	GM12878	blood:	n/a	chr1:209943038-209943048
33	POLR2A	chr1:209941509-209947286	GM12878	blood:	n/a	n/a
34	POLR2A	chr1:209941597-209945746	GM19099	blood:	n/a	n/a
35	POLR2A	chr1:209941520-209945190	GM15510	blood:	n/a	n/a
36	MAX	chr1:209942439-209943149	SK-N-SH	brain:	n/a	chr1:209943038-209943048
37	MTA3	chr1:209941682-209942582	GM12878	blood:	n/a	n/a
38	RELA	chr1:209941611-209943388	GM18951	blood:	n/a	n/a
39	RUNX3	chr1:209942446-209943330	GM12878	blood:	n/a	n/a
40	POLR2A	chr1:209942360-209945616	GM12892	blood:	n/a	n/a
41	STAT5A	chr1:209941513-209942474	GM12878	blood:	n/a	chr1:209941764-209941772
42	TBL1XR1	chr1:209941228-209943259	GM12878	blood:	n/a	n/a
43	ELK1	chr1:209942425-209943259	GM12878	blood:	n/a	chr1:209943068-209943077 chr1:209943068-209943077
44	JUND	chr1:209942338-209943763	SK-N-SH	brain:	n/a	n/a
45	TEAD4	chr1:209942321-209943779	SK-N-SH	brain:	n/a	n/a
46	MEF2A	chr1:209942339-209943373	SK-N-SH	brain:	n/a	chr1:209942839-209942854 chr1:209942838-209942859 chr1:209942840-209942854
47	JUND	chr1:209942310-209943213	SK-N-SH	brain:	n/a	n/a
48	RELA	chr1:209941085-209943380	GM12891	blood:	n/a	n/a
49	RELA	chr1:209941196-209943211	GM10847	blood:	n/a	n/a
50	CHD2	chr1:209941614-209943541	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:209940844..209943415-chr1:209955888..209958090,3	K562	blood:
2	chr1:209940429..209942619-chr1:209957623..209959222,2	MCF-7	breast:
3	chr1:209931478..209933302-chr1:209941660..209944063,2	K562	blood:

Variant related genes	Relation type
TRAF3IP3	TF binding region
ENSG00000162757	Chromatin interaction
ENSG00000009790	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1006632	chr1:209886202-209970355	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv4343	chr1:209929932-209974877	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	esv3429215	chr1:209942329-209947327	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209931000-209943200	Weak transcription	Lung	lung
2	chr1:209931000-209943600	Weak transcription	Gastric	stomach
3	chr1:209940600-209942800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
4	chr1:209940600-209943600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:209940600-209944200	Flanking Active TSS	Dnd41	blood
6	chr1:209940800-209942800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:209940800-209943800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:209940800-209943800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr1:209940800-209944000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:209940800-209944000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:209940800-209944000	Enhancers	HMEC	breast
12	chr1:209940800-209946200	Enhancers	Fetal Stomach	stomach
13	chr1:209941000-209944000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:209941000-209945800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:209941200-209942600	Weak transcription	Small Intestine	intestine
16	chr1:209941200-209942800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:209941200-209943400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:209941400-209942600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr1:209941400-209942600	Enhancers	NHEK	skin
20	chr1:209941400-209942600	Enhancers	Osteobl	bone
21	chr1:209941400-209943200	Weak transcription	Fetal Intestine Large	intestine
22	chr1:209941400-209943600	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr1:209941400-209943800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:209941400-209943800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:209941400-209943800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr1:209941400-209944200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr1:209941400-209944400	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr1:209941400-209945000	Flanking Active TSS	GM12878-XiMat	blood
29	chr1:209941600-209942800	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr1:209941600-209943600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr1:209941600-209943600	Active TSS	Thymus	Thymus
32	chr1:209941600-209943800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:209941600-209943800	Enhancers	Brain Hippocampus Middle	brain
34	chr1:209941600-209943800	Enhancers	Fetal Muscle Leg	muscle
35	chr1:209941600-209944000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:209941600-209944200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:209941600-209944400	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr1:209941600-209944400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr1:209941800-209942600	Enhancers	Brain Anterior Caudate	brain
40	chr1:209941800-209942600	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr1:209941800-209942600	Enhancers	Right Ventricle	heart
42	chr1:209941800-209943000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr1:209941800-209943000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr1:209941800-209943000	Active TSS	Colonic Mucosa	Colon
45	chr1:209941800-209943600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:209941800-209943600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr1:209941800-209943600	Enhancers	Fetal Lung	lung
48	chr1:209941800-209943800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:209941800-209943800	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr1:209941800-209944000	Flanking Active TSS	Stomach Smooth Muscle	stomach

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