Variant report

Variant	rs555983850
Chromosome Location	chr9:98266421-98266422
allele	C/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	MAX	chr9:98266357-98266595	HepG2	liver:	n/a	n/a
2	FOS	chr9:98266340-98266664	HUVEC	blood vessel:	n/a	chr9:98266473-98266480 chr9:98266471-98266480 chr9:98266470-98266481 chr9:98266475-98266487 chr9:98266470-98266481 chr9:98266471-98266481 chr9:98266468-98266479
3	JUND	chr9:98266316-98267086	K562	blood:	n/a	chr9:98266473-98266480 chr9:98266470-98266481 chr9:98266471-98266480 chr9:98266936-98266945 chr9:98266656-98266665 chr9:98266475-98266487 chr9:98266470-98266481 chr9:98266471-98266481 chr9:98266468-98266479
4	EP300	chr9:98266263-98266720	A549	lung:	n/a	chr9:98266471-98266480
5	MAFK	chr9:98266350-98266800	HepG2	liver:	n/a	n/a
6	MAZ	chr9:98266363-98266552	HepG2	liver:	n/a	n/a
7	CEBPB	chr9:98266288-98266597	K562	blood:	n/a	n/a
8	JUND	chr9:98266389-98266690	A549	lung:	n/a	chr9:98266473-98266480 chr9:98266470-98266481 chr9:98266471-98266480 chr9:98266656-98266665 chr9:98266475-98266487 chr9:98266470-98266481 chr9:98266471-98266481 chr9:98266468-98266479
9	MAFK	chr9:98266356-98266614	K562	blood:	n/a	n/a
10	ARID3A	chr9:98266249-98267286	HepG2	liver:	n/a	n/a
11	FOXA1	chr9:98266255-98266758	HepG2	liver:	n/a	n/a
12	BHLHE40	chr9:98266288-98266595	HepG2	liver:	n/a	n/a
13	STAT3	chr9:98266343-98266554	MCF10A-Er-Src	breast:	n/a	n/a
14	JUND	chr9:98266285-98266678	HepG2	liver:	n/a	chr9:98266473-98266480 chr9:98266470-98266481 chr9:98266471-98266480 chr9:98266656-98266665 chr9:98266475-98266487 chr9:98266470-98266481 chr9:98266471-98266481 chr9:98266468-98266479
15	STAT3	chr9:98266340-98266598	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr9:98266355-98266599	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr9:98266299-98266626	MCF10A-Er-Src	breast:	n/a	chr9:98266473-98266480 chr9:98266471-98266480 chr9:98266470-98266481 chr9:98266475-98266487 chr9:98266470-98266481 chr9:98266471-98266481 chr9:98266468-98266479
18	GATA3	chr9:98266241-98266864	A549	lung:	n/a	n/a
19	CEBPB	chr9:98266277-98266613	HepG2	liver:	n/a	n/a
20	JUN	chr9:98266292-98266652	HepG2	liver:	n/a	chr9:98266473-98266480 chr9:98266471-98266480 chr9:98266475-98266487 chr9:98266470-98266481 chr9:98266471-98266481 chr9:98266468-98266479
21	TEAD4	chr9:98266227-98266720	HepG2	liver:	n/a	n/a
22	FOXA2	chr9:98266335-98266659	HepG2	liver:	n/a	n/a
23	SP1	chr9:98266273-98266666	HepG2	liver:	n/a	chr9:98266515-98266528
24	BATF	chr9:98266336-98266581	GM12878	blood:	n/a	n/a
25	ZNF384	chr9:98266341-98266562	GM12878	blood:	n/a	n/a
26	JUN	chr9:98266334-98267165	K562	blood:	n/a	chr9:98266473-98266480 chr9:98266471-98266480 chr9:98266936-98266945 chr9:98266656-98266665 chr9:98266475-98266487 chr9:98266470-98266481 chr9:98266471-98266481 chr9:98266468-98266479
27	MAFF	chr9:98266346-98266658	HepG2	liver:	n/a	chr9:98266473-98266491
28	CEBPB	chr9:98266282-98266664	A549	lung:	n/a	n/a
29	MYBL2	chr9:98266307-98266731	HepG2	liver:	n/a	n/a
30	TBP	chr9:98266381-98266632	HepG2	liver:	n/a	n/a
31	MYC	chr9:98266397-98266657	MCF10A-Er-Src	breast:	n/a	n/a
32	ZBTB7A	chr9:98266334-98266579	HepG2	liver:	n/a	n/a
33	FOXA2	chr9:98266328-98266971	HepG2	liver:	n/a	n/a
34	FOSL2	chr9:98266314-98266659	A549	lung:	n/a	chr9:98266473-98266480 chr9:98266471-98266480 chr9:98266471-98266482 chr9:98266475-98266487 chr9:98266470-98266481 chr9:98266471-98266481 chr9:98266468-98266479
35	EP300	chr9:98266335-98266666	HepG2	liver:	n/a	chr9:98266471-98266480
36	FOXA2	chr9:98266144-98266828	A549	lung:	n/a	n/a
37	SP1	chr9:98266219-98266804	A549	lung:	n/a	chr9:98266515-98266528
38	JUND	chr9:98266343-98266617	HepG2	liver:	n/a	chr9:98266473-98266480 chr9:98266470-98266481 chr9:98266471-98266480 chr9:98266475-98266487 chr9:98266470-98266481 chr9:98266471-98266481 chr9:98266468-98266479
39	CEBPD	chr9:98266329-98266579	HepG2	liver:	n/a	n/a
40	CEBPB	chr9:98266295-98266627	HepG2	liver:	n/a	n/a
41	FOXA1	chr9:98266360-98266556	T-47D	breast:	n/a	n/a
42	BATF	chr9:98266338-98266593	GM12878	blood:	n/a	n/a
43	BHLHE40	chr9:98266333-98266803	HepG2	liver:	n/a	n/a
44	HDAC2	chr9:98266302-98266684	HepG2	liver:	n/a	chr9:98266544-98266558
45	FOSL2	chr9:98266254-98266734	A549	lung:	n/a	chr9:98266473-98266480 chr9:98266471-98266480 chr9:98266471-98266482 chr9:98266656-98266665 chr9:98266475-98266487 chr9:98266470-98266481 chr9:98266471-98266481 chr9:98266468-98266479
46	FOS	chr9:98266293-98266656	MCF10A-Er-Src	breast:	n/a	chr9:98266473-98266480 chr9:98266471-98266480 chr9:98266470-98266481 chr9:98266475-98266487 chr9:98266470-98266481 chr9:98266471-98266481 chr9:98266468-98266479
47	TCF12	chr9:98266217-98266756	A549	lung:	n/a	n/a
48	CEBPB	chr9:98266243-98266642	IMR90	lung:	n/a	n/a
49	CEBPB	chr9:98266257-98266610	A549	lung:	n/a	n/a
50	SIN3AK20	chr9:98266388-98266556	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:98243853..98250190-chr9:98264163..98273969,14	MCF-7	breast:
2	chr9:98078830..98081414-chr9:98266391..98270806,3	MCF-7	breast:
3	chr9:98246124..98248586-chr9:98264978..98268110,3	K562	blood:
4	chr9:98187278..98190652-chr9:98265637..98273315,6	K562	blood:
5	chr9:98210232..98214386-chr9:98264282..98269915,4	K562	blood:
6	chr9:98262143..98268122-chr9:98269863..98275996,9	MCF-7	breast:
7	chr9:98187644..98190286-chr9:98266151..98268622,2	K562	blood:

Variant related genes	Relation type
ENSG00000271155	TF binding region
PTCH1	TF binding region
ENSG00000158169	Chromatin interaction
ENSG00000185920	Chromatin interaction
ENSG00000237857	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531633	chr9:98078300-98431120	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv831658	chr9:98152971-98342178	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv430083	chr9:98204245-98445645	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv824994	chr9:98239963-98314431	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv824995	chr9:98243455-98326547	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv824996	chr9:98245375-98283861	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv3395842	chr9:98265883-98266425	Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3506295	chr9:98265924-98266433	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv3506292	chr9:98265935-98266438	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv5236	chr9:98265957-98266462	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98240200-98267400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr9:98242800-98266600	Weak transcription	Adipose Nuclei	Adipose
3	chr9:98243000-98267800	Weak transcription	Aorta	Aorta
4	chr9:98254000-98267400	Weak transcription	Small Intestine	intestine
5	chr9:98257400-98266600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:98257400-98267000	Enhancers	Brain Hippocampus Middle	brain
7	chr9:98259600-98266600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:98260000-98266600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr9:98260800-98266600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:98260800-98267000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr9:98261400-98266800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:98262200-98266800	Enhancers	Fetal Heart	heart
13	chr9:98262400-98266600	Weak transcription	Osteobl	bone
14	chr9:98262600-98266600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr9:98262600-98266600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr9:98262800-98267600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr9:98263000-98267800	Weak transcription	Placenta	Placenta
18	chr9:98263000-98267800	Weak transcription	Lung	lung
19	chr9:98263400-98266600	Enhancers	Brain Cingulate Gyrus	brain
20	chr9:98263400-98266600	Enhancers	Brain Substantia Nigra	brain
21	chr9:98264000-98266600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr9:98264000-98267000	Enhancers	Brain Angular Gyrus	brain
23	chr9:98264000-98267600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr9:98264200-98267200	Enhancers	Pancreas	Pancrea
25	chr9:98264400-98267200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr9:98264600-98266600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:98264600-98266600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:98264600-98266600	Weak transcription	Psoas Muscle	Psoas
29	chr9:98264600-98266600	Weak transcription	Right Atrium	heart
30	chr9:98264600-98266800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:98264600-98268000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr9:98264600-98268000	Weak transcription	Gastric	stomach
33	chr9:98264800-98267200	Enhancers	Fetal Kidney	kidney
34	chr9:98264800-98267200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr9:98265000-98266600	Enhancers	HepG2	liver
36	chr9:98265000-98266600	Enhancers	K562	blood
37	chr9:98265200-98266600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:98265200-98267400	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr9:98265200-98267600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr9:98265400-98266600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr9:98265400-98266600	Enhancers	A549	lung
42	chr9:98265400-98266800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr9:98265400-98266800	Weak transcription	Fetal Brain Female	brain
44	chr9:98265400-98267200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr9:98265600-98266600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr9:98265600-98267400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr9:98265600-98267800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr9:98265800-98266800	Enhancers	Brain Germinal Matrix	brain
49	chr9:98265800-98267400	Enhancers	NHLF	lung
50	chr9:98265800-98268600	Weak transcription	Stomach Mucosa	stomach

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