Variant report

Variant	rs146518523
Chromosome Location	chr4:102266706-102266707
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	SETDB1	chr4:102266476-102266852	U2OS	brain:	n/a	n/a
2	EP300	chr4:102266471-102266810	SK-N-SH_RA	brain:	n/a	n/a
3	MAZ	chr4:102266360-102270194	IMR90	lung:	n/a	chr4:102269253-102269263 chr4:102267703-102267712 chr4:102267599-102267609 chr4:102267620-102267630 chr4:102268341-102268350 chr4:102268753-102268763 chr4:102269560-102269569
4	MXI1	chr4:102266321-102270331	IMR90	lung:	n/a	n/a
5	POLR2A	chr4:102266637-102269622	GM19193	blood:	n/a	n/a
6	EP300	chr4:102266469-102266849	SK-N-SH_RA	brain:	n/a	n/a
7	JUND	chr4:102266664-102267084	H1-hESC	embryonic stem cell:	n/a	chr4:102266675-102266684
8	RELA	chr4:102266534-102267313	GM19193	blood:	n/a	chr4:102267170-102267179 chr4:102267170-102267179
9	RELA	chr4:102266449-102267236	GM18951	blood:	n/a	chr4:102267170-102267179 chr4:102267170-102267179
10	GATA3	chr4:102266409-102266849	T-47D	breast:	n/a	n/a
11	POLR2A	chr4:102266556-102267005	HCT-116	colon:	n/a	n/a
12	POLR2A	chr4:102266488-102267197	PFSK-1	brain:	n/a	n/a
13	RAD21	chr4:102266415-102267545	IMR90	lung:	n/a	n/a
14	RUNX3	chr4:102266416-102267326	GM12878	blood:	n/a	n/a
15	TCF12	chr4:102266274-102267227	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr4:102266493-102269919	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr4:102266529-102269707	HL-60	blood:	n/a	n/a
18	GATA1	chr4:102266392-102267093	PBDE	blood:	n/a	chr4:102266408-102266417
19	TEAD4	chr4:102266552-102266947	H1-hESC	embryonic stem cell:	n/a	chr4:102266729-102266738
20	GATA3	chr4:102266265-102267525	SK-N-SH	brain:	n/a	chr4:102266408-102266417
21	TEAD4	chr4:102266489-102267111	H1-hESC	embryonic stem cell:	n/a	chr4:102266729-102266738
22	MYC	chr4:102266376-102269587	NB4	blood:	n/a	chr4:102269253-102269263 chr4:102267703-102267712 chr4:102267599-102267609 chr4:102267620-102267630 chr4:102268341-102268350 chr4:102268753-102268763 chr4:102269560-102269569
23	KAP1	chr4:102266414-102267118	HEK293	kidney:	n/a	n/a
24	CEBPB	chr4:102266693-102266893	H1-hESC	embryonic stem cell:	n/a	n/a
25	ZNF263	chr4:102266461-102267216	HEK293-T-REx	kidney:	n/a	chr4:102266879-102266900
26	REST	chr4:102266314-102267404	H1-neurons	neurons:	n/a	chr4:102266678-102266691 chr4:102266678-102266691 chr4:102266676-102266686
27	MXI1	chr4:102265923-102271471	SK-N-SH	brain:	n/a	n/a
28	RAD21	chr4:102266637-102267190	H1-hESC	embryonic stem cell:	n/a	n/a
29	GATA3	chr4:102266304-102266939	MCF-7	breast:	n/a	chr4:102266408-102266417
30	PAX5	chr4:102266579-102266879	GM12878	blood:	n/a	n/a
31	CHD2	chr4:102266540-102269492	GM12878	blood:	n/a	n/a
32	WRNIP1	chr4:102266605-102267073	GM12878	blood:	n/a	n/a
33	MAX	chr4:102266372-102270125	NB4	blood:	n/a	chr4:102269253-102269263 chr4:102267703-102267712 chr4:102267599-102267609 chr4:102267620-102267630 chr4:102268341-102268350 chr4:102268753-102268763 chr4:102269560-102269569
34	RAD21	chr4:102266452-102267135	SK-N-SH_RA	brain:	n/a	n/a
35	GATA3	chr4:102266311-102266870	SH-SY5Y	brain:	n/a	chr4:102266408-102266417
36	POLR2A	chr4:102266540-102267011	HepG2	liver:	n/a	n/a
37	POLR2A	chr4:102266467-102270028	H1-neurons	neurons:	n/a	n/a
38	MAX	chr4:102266623-102267352	A549	lung:	n/a	n/a
39	POLR2A	chr4:102266509-102269778	HepG2	liver:	n/a	n/a
40	POLR2A	chr4:102266673-102269911	Raji	blood:	n/a	n/a
41	SIN3AK20	chr4:102266403-102267075	PFSK-1	brain:	n/a	n/a
42	GATA2	chr4:102266094-102267135	SH-SY5Y	brain:	n/a	chr4:102266408-102266417
43	RAD21	chr4:102266335-102267229	SK-N-SH_RA	brain:	n/a	n/a
44	CHD2	chr4:102266600-102267961	HepG2	liver:	n/a	n/a
45	STAT5A	chr4:102266565-102266992	GM12878	blood:	n/a	chr4:102266868-102266880
46	MYC	chr4:102266534-102266734	MCF10A-Er-Src	breast:	n/a	n/a
47	GATA3	chr4:102266493-102266822	T-47D	breast:	n/a	n/a
48	POLR2A	chr4:102266685-102269628	GM18951	blood:	n/a	n/a
49	RAD21	chr4:102266642-102267125	H1-hESC	embryonic stem cell:	n/a	n/a
50	REST	chr4:102266485-102266769	SK-N-SH	brain:	n/a	chr4:102266678-102266691 chr4:102266678-102266691 chr4:102266676-102266686

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:102265718..102267485-chr4:103187307..103189886,2	MCF-7	breast:
2	chr4:102263328..102265199-chr4:102265515..102267436,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EMCN-3	chr4:102265025-102267178	NONHSAT097571

Variant related genes	Relation type
ENSG00000254531	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1011351	chr4:102056024-102450302	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv879676	chr4:102202285-102340930	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
8	esv3374573	chr4:102266354-102269502	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv3413525	chr4:102266529-102269802	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102265600-102269800	Active TSS	NHLF	lung
2	chr4:102265800-102266800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:102265800-102266800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:102265800-102266800	Flanking Active TSS	Fetal Brain Female	brain
5	chr4:102265800-102267000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:102265800-102267000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr4:102265800-102267400	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr4:102265800-102269800	Active TSS	Brain Angular Gyrus	brain
9	chr4:102265800-102270000	Active TSS	Fetal Kidney	kidney
10	chr4:102266000-102266800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:102266000-102266800	Flanking Active TSS	NHDF-Ad	bronchial
12	chr4:102266000-102266800	Flanking Active TSS	NHEK	skin
13	chr4:102266000-102267000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:102266000-102267000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:102266000-102267000	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr4:102266000-102267000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr4:102266000-102267000	Flanking Active TSS	HMEC	breast
18	chr4:102266000-102267000	Flanking Active TSS	NH-A	brain
19	chr4:102266000-102267000	Flanking Active TSS	Osteobl	bone
20	chr4:102266000-102267200	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr4:102266000-102267200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr4:102266000-102269000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:102266200-102266800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:102266200-102266800	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr4:102266200-102267000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:102266200-102267000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr4:102266200-102267000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr4:102266200-102267000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:102266200-102267000	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr4:102266200-102267000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr4:102266200-102267000	Flanking Active TSS	GM12878-XiMat	blood
32	chr4:102266200-102267200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr4:102266200-102267200	Flanking Active TSS	HUVEC	blood vessel
34	chr4:102266200-102269800	Active TSS	Right Atrium	heart
35	chr4:102266200-102270000	Active TSS	Aorta	Aorta
36	chr4:102266200-102270000	Active TSS	Ovary	ovary
37	chr4:102266400-102266800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
38	chr4:102266400-102266800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
39	chr4:102266400-102266800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr4:102266400-102266800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr4:102266400-102266800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:102266400-102266800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr4:102266400-102266800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr4:102266400-102266800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:102266400-102266800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:102266400-102266800	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr4:102266400-102266800	Flanking Active TSS	Right Ventricle	heart
48	chr4:102266400-102266800	Flanking Active TSS	HepG2	liver
49	chr4:102266400-102266800	Flanking Active TSS	HSMMtube	muscle
50	chr4:102266400-102267000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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