Variant report

Variant	rs565599174
Chromosome Location	chr9:7800119-7800120
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	RFX5	chr9:7799737-7800149	GM12878	blood:	n/a	n/a
2	MYC	chr9:7798909-7800127	NB4	blood:	n/a	chr9:7799384-7799394 chr9:7799385-7799394 chr9:7799385-7799394 chr9:7799385-7799394 chr9:7799384-7799395 chr9:7799385-7799395 chr9:7799383-7799392
3	POLR2A	chr9:7798390-7800291	GM12891	blood:	n/a	n/a
4	GABPA	chr9:7799368-7800154	SK-N-SH	brain:	n/a	chr9:7799380-7799389
5	POLR2A	chr9:7800104-7800122	Hela-S3	cervix:	n/a	n/a
6	MAX	chr9:7798788-7800267	NB4	blood:	n/a	chr9:7799384-7799394 chr9:7799385-7799394 chr9:7799385-7799394 chr9:7799385-7799394 chr9:7799384-7799395 chr9:7799385-7799395 chr9:7799383-7799392
7	JUND	chr9:7799557-7800214	K562	blood:	n/a	n/a
8	MXI1	chr9:7798715-7800380	IMR90	lung:	n/a	chr9:7799386-7799395 chr9:7799384-7799393 chr9:7799344-7799353
9	NRF1	chr9:7799507-7800454	SK-N-SH	brain:	n/a	n/a
10	BATF	chr9:7799872-7800146	GM12878	blood:	n/a	chr9:7800040-7800051
11	GATA3	chr9:7799311-7800156	A549	lung:	n/a	n/a
12	POLR2A	chr9:7799019-7800218	GM18951	blood:	n/a	n/a
13	MAX	chr9:7798873-7800184	A549	lung:	n/a	chr9:7799384-7799394 chr9:7799385-7799394 chr9:7799385-7799394 chr9:7799385-7799394 chr9:7799384-7799395 chr9:7799385-7799395 chr9:7799383-7799392
14	ELF1	chr9:7799154-7800243	HCT-116	colon:	n/a	n/a
15	ELF1	chr9:7799365-7800144	SK-N-SH	brain:	n/a	n/a
16	FOS	chr9:7799697-7800218	MCF10A-Er-Src	breast:	n/a	n/a
17	ELF1	chr9:7799509-7800130	GM12878	blood:	n/a	n/a
18	POLR2A	chr9:7798531-7800297	MCF10A-Er-Src	breast:	n/a	n/a
19	MYC	chr9:7798907-7800240	MCF10A-Er-Src	breast:	n/a	chr9:7799384-7799394 chr9:7799385-7799394 chr9:7799385-7799394 chr9:7799385-7799394 chr9:7799384-7799395 chr9:7799385-7799395 chr9:7799383-7799392
20	STAT1	chr9:7799340-7800131	GM12878	blood:	n/a	n/a
21	POLR2A	chr9:7798940-7800256	GM12892	blood:	n/a	n/a
22	BHLHE40	chr9:7799210-7800252	GM12878	blood:	n/a	n/a
23	MAX	chr9:7799090-7800134	HCT-116	colon:	n/a	chr9:7799384-7799394 chr9:7799385-7799394 chr9:7799385-7799394 chr9:7799385-7799394 chr9:7799384-7799395 chr9:7799385-7799395 chr9:7799383-7799392
24	MYC	chr9:7798715-7800271	MCF10A-Er-Src	breast:	n/a	chr9:7799384-7799394 chr9:7799385-7799394 chr9:7799385-7799394 chr9:7799385-7799394 chr9:7799384-7799395 chr9:7799385-7799395 chr9:7799383-7799392
25	POLR2A	chr9:7798417-7800243	GM12878	blood:	n/a	n/a
26	MAZ	chr9:7798937-7800181	K562	blood:	n/a	chr9:7799384-7799394 chr9:7799385-7799394 chr9:7799385-7799394 chr9:7799385-7799394 chr9:7799384-7799395 chr9:7799385-7799395 chr9:7799383-7799392
27	GABPA	chr9:7799135-7800267	MCF-7	breast:	n/a	chr9:7799380-7799389
28	MAZ	chr9:7799149-7800255	GM12878	blood:	n/a	chr9:7799384-7799394 chr9:7799385-7799394 chr9:7799385-7799394 chr9:7799385-7799394 chr9:7799384-7799395 chr9:7799385-7799395 chr9:7799383-7799392
29	RCOR1	chr9:7799239-7800248	Hela-S3	cervix:	n/a	n/a
30	ZNF143	chr9:7799452-7800144	Hela-S3	cervix:	n/a	chr9:7799860-7799878 chr9:7799855-7799874
31	ELF1	chr9:7799331-7800162	MCF-7	breast:	n/a	n/a
32	MXI1	chr9:7798283-7800183	SK-N-SH	brain:	n/a	chr9:7799386-7799395 chr9:7799384-7799393 chr9:7799344-7799353
33	POLR2A	chr9:7799007-7800127	GM19099	blood:	n/a	n/a
34	POLR2A	chr9:7798947-7800286	NB4	blood:	n/a	n/a
35	HCFC1	chr9:7798878-7800523	Hela-S3	cervix:	n/a	n/a
36	MTA3	chr9:7799123-7800380	GM12878	blood:	n/a	n/a
37	SIX5	chr9:7799449-7800119	A549	lung:	n/a	chr9:7799866-7799880
38	ELF1	chr9:7799575-7800143	HCT-116	colon:	n/a	n/a
39	STAT3	chr9:7799710-7800254	MCF10A-Er-Src	breast:	n/a	chr9:7799861-7799872
40	POLR2A	chr9:7798699-7800122	SK-N-MC	brain:	n/a	n/a
41	RCOR1	chr9:7799325-7800127	K562	blood:	n/a	n/a
42	ZNF143	chr9:7799435-7800244	K562	blood:	n/a	chr9:7799860-7799878 chr9:7799855-7799874
43	FOS	chr9:7799708-7800129	MCF10A-Er-Src	breast:	n/a	n/a
44	MYC	chr9:7798841-7800139	A549	lung:	n/a	chr9:7799384-7799394 chr9:7799385-7799394 chr9:7799385-7799394 chr9:7799385-7799394 chr9:7799384-7799395 chr9:7799385-7799395 chr9:7799383-7799392
45	ELF1	chr9:7799539-7800127	SK-N-SH	brain:	n/a	n/a
46	RCOR1	chr9:7800085-7800196	K562	blood:	n/a	n/a
47	TBP	chr9:7799034-7800205	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr9:7798866-7800174	GM18505	blood:	n/a	n/a
49	POLR2A	chr9:7798817-7800195	GM12878	blood:	n/a	n/a
50	ZNF143	chr9:7799205-7800238	GM12878	blood:	n/a	chr9:7799860-7799878 chr9:7799855-7799874 chr9:7799363-7799381

No.	Distal block	Cell Line	Cell type
1	chr9:7785236..7788053-chr9:7798343..7800585,2	K562	blood:
2	chr9:7785236..7787094-chr9:7798343..7800559,2	K562	blood:
3	chr15:59981502..59982267-chr9:7799535..7800195,2	NB4	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPRD-8	chr9:7800041-7800148	NONHSAT130178

Variant related genes	Relation type
TMEM261	TF binding region
ENSG00000273056	Chromatin interaction
ENSG00000140299	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033077	chr9:7358832-7990735	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539977	chr9:7358832-7990735	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv613266	chr9:7588854-7901308	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv995116	chr9:7682729-8065192	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv892213	chr9:7770942-7856992	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv892214	chr9:7774180-7822486	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv892215	chr9:7799787-7889991	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription 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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7798200-7800400	Active TSS	K562	blood
2	chr9:7798400-7800200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr9:7798400-7800200	Active TSS	Psoas Muscle	Psoas
4	chr9:7798600-7800200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr9:7798600-7800200	Active TSS	H1 Cell Line	embryonic stem cell
6	chr9:7798600-7800200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr9:7798600-7800200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr9:7798600-7800200	Active TSS	Fetal Kidney	kidney
9	chr9:7798600-7800200	Active TSS	NHLF	lung
10	chr9:7798600-7800400	Active TSS	Thymus	Thymus
11	chr9:7798800-7800200	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr9:7798800-7800200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr9:7798800-7800200	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr9:7798800-7800200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:7798800-7800200	Active TSS	Aorta	Aorta
16	chr9:7798800-7800200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr9:7798800-7800200	Active TSS	Fetal Muscle Trunk	muscle
18	chr9:7798800-7800200	Active TSS	Right Atrium	heart
19	chr9:7798800-7800200	Active TSS	Right Ventricle	heart
20	chr9:7799000-7800200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:7799000-7800200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:7799000-7800200	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr9:7799000-7800200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:7799000-7800200	Active TSS	Fetal Intestine Small	intestine
25	chr9:7799000-7800200	Active TSS	Stomach Mucosa	stomach
26	chr9:7799000-7800200	Active TSS	HMEC	breast
27	chr9:7799000-7800400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:7799000-7800400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr9:7799000-7800400	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr9:7799000-7800400	Active TSS	A549	lung
31	chr9:7799000-7800400	Active TSS	GM12878-XiMat	blood
32	chr9:7799000-7800400	Active TSS	NHEK	skin
33	chr9:7799200-7800200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:7799200-7800200	Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr9:7799200-7800200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr9:7799200-7800200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:7799200-7800200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr9:7799200-7800200	Active TSS	Adipose Nuclei	Adipose
39	chr9:7799200-7800200	Active TSS	Liver	Liver
40	chr9:7799200-7800200	Active TSS	Brain Cingulate Gyrus	brain
41	chr9:7799200-7800200	Active TSS	Brain Hippocampus Middle	brain
42	chr9:7799200-7800200	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr9:7799200-7800200	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr9:7799200-7800200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr9:7799200-7800200	Active TSS	Fetal Brain Female	brain
46	chr9:7799200-7800200	Active TSS	Left Ventricle	heart
47	chr9:7799200-7800200	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr9:7799200-7800200	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr9:7799200-7800200	Active TSS	HSMM	muscle
50	chr9:7799200-7800200	Active TSS	HUVEC	blood vessel

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