Variant report

Variant	rs530487807
Chromosome Location	chr4:102267042-102267043
allele	G/T
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	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
2	CTCF	chr4:102267000-102267150	AG04450	lung:	n/a	n/a
3	MXI1	chr4:102266321-102270331	IMR90	lung:	n/a	n/a
4	POLR2A	chr4:102266637-102269622	GM19193	blood:	n/a	n/a
5	JUND	chr4:102266664-102267084	H1-hESC	embryonic stem cell:	n/a	chr4:102266675-102266684
6	CTCF	chr4:102266900-102267050	SK-N-SH_RA	brain:	n/a	n/a
7	ZNF143	chr4:102267003-102267195	GM12878	blood:	n/a	n/a
8	SMC3	chr4:102266938-102267125	GM12878	blood:	n/a	n/a
9	RELA	chr4:102266534-102267313	GM19193	blood:	n/a	chr4:102267170-102267179 chr4:102267170-102267179
10	TBP	chr4:102266995-102267161	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZBTB33	chr4:102267016-102267611	SK-N-SH	brain:	n/a	chr4:102267312-102267327
12	RELA	chr4:102266449-102267236	GM18951	blood:	n/a	chr4:102267170-102267179 chr4:102267170-102267179
13	POLR2A	chr4:102266488-102267197	PFSK-1	brain:	n/a	n/a
14	CHD2	chr4:102266812-102267355	H1-hESC	embryonic stem cell:	n/a	n/a
15	RAD21	chr4:102266415-102267545	IMR90	lung:	n/a	n/a
16	POLR2A	chr4:102266983-102267227	Gliobla	brain:	n/a	n/a
17	MXI1	chr4:102266756-102267147	H1-hESC	embryonic stem cell:	n/a	n/a
18	RUNX3	chr4:102266416-102267326	GM12878	blood:	n/a	n/a
19	RELA	chr4:102266933-102267439	GM19099	blood:	n/a	chr4:102267170-102267179 chr4:102267170-102267179
20	POLR2A	chr4:102267001-102267147	MCF10A-Er-Src	breast:	n/a	n/a
21	TCF12	chr4:102266274-102267227	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr4:102266493-102269919	H1-neurons	neurons:	n/a	n/a
23	POLR2A	chr4:102266529-102269707	HL-60	blood:	n/a	n/a
24	BHLHE40	chr4:102266870-102267476	GM12878	blood:	n/a	n/a
25	GATA1	chr4:102266392-102267093	PBDE	blood:	n/a	chr4:102266408-102266417
26	POLR2A	chr4:102266971-102267116	GM12878	blood:	n/a	n/a
27	CTCF	chr4:102266900-102267050	AG10803	skin:	n/a	n/a
28	GATA3	chr4:102266265-102267525	SK-N-SH	brain:	n/a	chr4:102266408-102266417
29	TEAD4	chr4:102266489-102267111	H1-hESC	embryonic stem cell:	n/a	chr4:102266729-102266738
30	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
31	EBF1	chr4:102266921-102267218	GM12878	blood:	n/a	n/a
32	KAP1	chr4:102266414-102267118	HEK293	kidney:	n/a	n/a
33	POLR2A	chr4:102266907-102267125	GM12878	blood:	n/a	n/a
34	CTCF	chr4:102266900-102267050	AG09309	skin:	n/a	n/a
35	ZNF263	chr4:102266461-102267216	HEK293-T-REx	kidney:	n/a	chr4:102266879-102266900
36	MAX	chr4:102266953-102267133	GM12878	blood:	n/a	n/a
37	REST	chr4:102266314-102267404	H1-neurons	neurons:	n/a	chr4:102266678-102266691 chr4:102266678-102266691 chr4:102266676-102266686
38	RCOR1	chr4:102266968-102267103	K562	blood:	n/a	n/a
39	ZNF143	chr4:102266768-102267067	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr4:102266992-102269753	GM19099	blood:	n/a	n/a
41	CHD1	chr4:102266915-102267074	H1-hESC	embryonic stem cell:	n/a	n/a
42	MXI1	chr4:102265923-102271471	SK-N-SH	brain:	n/a	n/a
43	RAD21	chr4:102266637-102267190	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr4:102266900-102267050	AoAF	blood vessel:	n/a	n/a
45	CHD2	chr4:102266540-102269492	GM12878	blood:	n/a	n/a
46	SIN3AK20	chr4:102266789-102267237	SK-N-SH	brain:	n/a	n/a
47	MXI1	chr4:102266782-102269552	HepG2	liver:	n/a	n/a
48	SIN3AK20	chr4:102266799-102267243	H1-hESC	embryonic stem cell:	n/a	n/a
49	WRNIP1	chr4:102266605-102267073	GM12878	blood:	n/a	n/a
50	CTCF	chr4:102266940-102267090	HAc	cerebellar:	n/a	n/a

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	chr4:102265800-102267400	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr4:102265800-102269800	Active TSS	Brain Angular Gyrus	brain
4	chr4:102265800-102270000	Active TSS	Fetal Kidney	kidney
5	chr4:102266000-102267200	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr4:102266000-102267200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr4:102266000-102269000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:102266200-102267200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr4:102266200-102267200	Flanking Active TSS	HUVEC	blood vessel
10	chr4:102266200-102269800	Active TSS	Right Atrium	heart
11	chr4:102266200-102270000	Active TSS	Aorta	Aorta
12	chr4:102266200-102270000	Active TSS	Ovary	ovary
13	chr4:102266400-102267200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:102266400-102267200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
15	chr4:102266400-102267200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr4:102266400-102267200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr4:102266400-102267200	Flanking Active TSS	Liver	Liver
18	chr4:102266400-102267200	Flanking Active TSS	Fetal Intestine Small	intestine
19	chr4:102266400-102267200	Flanking Active TSS	Dnd41	blood
20	chr4:102266400-102268200	Active TSS	Brain Germinal Matrix	brain
21	chr4:102266400-102269600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:102266400-102269600	Active TSS	Fetal Stomach	stomach
23	chr4:102266400-102269600	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr4:102266400-102269800	Active TSS	Brain Hippocampus Middle	brain
25	chr4:102266400-102269800	Active TSS	Small Intestine	intestine
26	chr4:102266400-102269800	Active TSS	HSMM	muscle
27	chr4:102266400-102270000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:102266400-102270000	Active TSS	Brain Cingulate Gyrus	brain
29	chr4:102266400-102270000	Active TSS	Gastric	stomach
30	chr4:102266400-102270200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr4:102266600-102267200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:102266600-102267200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:102266600-102267200	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr4:102266600-102267200	Flanking Active TSS	Placenta	Placenta
35	chr4:102266600-102267200	Flanking Active TSS	Fetal Thymus	thymus
36	chr4:102266600-102267200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr4:102266600-102269000	Active TSS	Fetal Muscle Trunk	muscle
38	chr4:102266600-102269600	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr4:102266600-102269600	Active TSS	Colonic Mucosa	Colon
40	chr4:102266600-102269800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:102266600-102269800	Active TSS	Colon Smooth Muscle	Colon
42	chr4:102266600-102269800	Active TSS	Lung	lung
43	chr4:102266600-102270000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:102266600-102270000	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr4:102266600-102270200	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr4:102266600-102270200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:102266600-102270200	Active TSS	A549	lung
48	chr4:102266600-102270400	Active TSS	Rectal Smooth Muscle	rectum
49	chr4:102266800-102267800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:102266800-102269200	Active TSS	HepG2	liver

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