Variant report

Variant	rs951447
Chromosome Location	chr9:96338098-96338099
allele	C/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	chr9:96338013-96338945	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr9:96337939-96339819	K562	blood:	n/a	n/a
3	RCOR1	chr9:96338008-96338366	K562	blood:	n/a	n/a
4	POLR2A	chr9:96338026-96339300	Raji	blood:	n/a	n/a
5	POLR2A	chr9:96338070-96338556	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr9:96337905-96338631	U87	brain:	n/a	n/a
7	POLR2A	chr9:96337911-96338631	U87	brain:	n/a	n/a
8	UBTF	chr9:96338001-96338809	K562	blood:	n/a	n/a
9	HEY1	chr9:96338055-96338397	K562	blood:	n/a	n/a
10	SPI1	chr9:96337979-96338359	GM12891	blood:	n/a	chr9:96338155-96338164 chr9:96338076-96338083 chr9:96338153-96338166 chr9:96338156-96338163 chr9:96338152-96338165 chr9:96338152-96338165
11	POLR2A	chr9:96337940-96340262	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr9:96337579-96339836	GM18505	blood:	n/a	n/a
13	RUNX3	chr9:96337972-96338404	GM12878	blood:	n/a	n/a
14	POLR2A	chr9:96338060-96338430	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr9:96338081-96338506	K562	blood:	n/a	n/a
16	POLR2A	chr9:96337825-96340014	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr9:96337916-96339960	GM12892	blood:	n/a	n/a
18	POLR2A	chr9:96337483-96339925	K562	blood:	n/a	n/a
19	MTA3	chr9:96337986-96338431	GM12878	blood:	n/a	n/a
20	POLR2A	chr9:96337949-96338792	Hela-S3	cervix:	n/a	n/a
21	MAX	chr9:96338065-96338378	Hela-S3	cervix:	n/a	n/a
22	TBP	chr9:96338008-96339257	K562	blood:	n/a	n/a
23	POLR2A	chr9:96338034-96338343	HCT-116	colon:	n/a	n/a
24	YY1	chr9:96337992-96339507	K562	blood:	n/a	chr9:96339333-96339347 chr9:96339339-96339348 chr9:96338199-96338213 chr9:96339459-96339473 chr9:96338851-96338865 chr9:96339051-96339063 chr9:96339360-96339374 chr9:96339370-96339384
25	POLR2A	chr9:96337960-96338672	SK-N-MC	brain:	n/a	n/a
26	ELF1	chr9:96337983-96338391	K562	blood:	n/a	chr9:96338152-96338165 chr9:96338153-96338164
27	MAZ	chr9:96337939-96339226	K562	blood:	n/a	chr9:96338698-96338708
28	RCOR1	chr9:96338092-96338370	GM12878	blood:	n/a	n/a
29	UBTF	chr9:96337990-96340266	K562	blood:	n/a	n/a
30	POLR2A	chr9:96337865-96340314	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr9:96338065-96339323	H1-neurons	neurons:	n/a	n/a
32	SPI1	chr9:96337638-96338429	GM12878	blood:	n/a	chr9:96338155-96338164 chr9:96338076-96338083 chr9:96338153-96338166 chr9:96338156-96338163 chr9:96338152-96338165 chr9:96338152-96338165
33	POLR2A	chr9:96338045-96338374	ECC-1	luminal epithelium:	n/a	n/a
34	TAF1	chr9:96337894-96338931	K562	blood:	n/a	n/a
35	TAF1	chr9:96337908-96339329	ECC-1	luminal epithelium:	n/a	n/a
36	REST	chr9:96337337-96340269	H1-neurons	neurons:	n/a	chr9:96339630-96339643 chr9:96339814-96339832 chr9:96338320-96338330
37	POLR2A	chr9:96337533-96339108	IMR90	lung:	n/a	n/a
38	MAZ	chr9:96337511-96340494	IMR90	lung:	n/a	chr9:96339336-96339346 chr9:96339537-96339547 chr9:96338698-96338708 chr9:96340026-96340036
39	TBP	chr9:96338040-96338488	GM12878	blood:	n/a	n/a
40	POLR2A	chr9:96337948-96338958	GM12878	blood:	n/a	n/a
41	POLR2A	chr9:96337909-96338917	HUVEC	blood vessel:	n/a	n/a
42	STAT5A	chr9:96337905-96338667	GM12878	blood:	n/a	chr9:96338339-96338351
43	CHD2	chr9:96337690-96338284	GM12878	blood:	n/a	chr9:96337908-96337918
44	HEY1	chr9:96338013-96338923	K562	blood:	n/a	chr9:96338888-96338903 chr9:96338693-96338708
45	POLR2A	chr9:96337981-96339870	NB4	blood:	n/a	n/a
46	RUNX3	chr9:96338012-96338434	GM12878	blood:	n/a	n/a
47	PML	chr9:96337937-96338484	GM12878	blood:	n/a	n/a
48	SPI1	chr9:96338037-96338262	GM12878	blood:	n/a	chr9:96338155-96338164 chr9:96338076-96338083 chr9:96338153-96338166 chr9:96338156-96338163 chr9:96338152-96338165 chr9:96338152-96338165
49	POLR2A	chr9:96338087-96338951	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr9:96337973-96339977	GM15510	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:96213158..96214882-chr9:96338001..96341678,3	K562	blood:
2	chr9:96211528..96214948-chr9:96337573..96343441,10	MCF-7	breast:
3	chr9:96211672..96218862-chr9:96335264..96341672,16	MCF-7	breast:
4	chr9:96337024..96339848-chr9:96617971..96619932,2	MCF-7	breast:
5	chr9:95895154..95898000-chr9:96338001..96340609,3	MCF-7	breast:
6	chr9:95856094..95858375-chr9:96337008..96340445,3	MCF-7	breast:
7	chr8:144819610..144821971-chr9:96337841..96340310,2	MCF-7	breast:
8	chr9:96337657..96339290-chr9:96927321..96930180,2	K562	blood:
9	chr9:95894803..95898160-chr9:96337820..96340366,3	MCF-7	breast:

Variant related genes	Relation type
PHF2	TF binding region
ENSG00000269946	Chromatin interaction
ENSG00000203499	Chromatin interaction
ENSG00000188938	Chromatin interaction
ENSG00000223446	Chromatin interaction
ENSG00000231990	Chromatin interaction
ENSG00000131669	Chromatin interaction
ENSG00000048828	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041803	chr9:96299639-96342013	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv824984	chr9:96310933-96375022	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv824985	chr9:96337735-96340349	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	esv3359621	chr9:96337881-96340629	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	esv3422729	chr9:96337956-96340504	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96337000-96338200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr9:96337000-96338400	Enhancers	Fetal Heart	heart
3	chr9:96337200-96338200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:96337200-96338200	Flanking Active TSS	Placenta	Placenta
5	chr9:96337200-96338200	Flanking Active TSS	Dnd41	blood
6	chr9:96337200-96338400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:96337200-96338400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr9:96337200-96338400	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr9:96337400-96338200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:96337400-96338200	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr9:96337400-96338200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr9:96337400-96338200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr9:96337400-96338200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:96337400-96338200	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr9:96337400-96338200	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr9:96337400-96338200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr9:96337400-96338200	Flanking Active TSS	HMEC	breast
18	chr9:96337400-96338200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr9:96337400-96338400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr9:96337400-96338400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr9:96337400-96338400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:96337400-96338400	Flanking Active TSS	Fetal Muscle Trunk	muscle
23	chr9:96337400-96338400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr9:96337600-96338200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:96337600-96338200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr9:96337600-96338200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr9:96337600-96338200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr9:96337600-96338200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr9:96337600-96338200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr9:96337600-96338200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr9:96337600-96338200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr9:96337600-96338200	Flanking Active TSS	Fetal Brain Female	brain
33	chr9:96337600-96338200	Flanking Active TSS	Pancreas	Pancrea
34	chr9:96337600-96338200	Flanking Active TSS	GM12878-XiMat	blood
35	chr9:96337600-96338200	Flanking Active TSS	NHEK	skin
36	chr9:96337600-96338400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr9:96337600-96338400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr9:96337600-96338400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr9:96337600-96338400	Flanking Active TSS	Fetal Thymus	thymus
40	chr9:96337600-96339600	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr9:96337600-96340000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr9:96337600-96340000	Active TSS	Ovary	ovary
43	chr9:96337600-96340000	Active TSS	A549	lung
44	chr9:96337600-96340200	Active TSS	Aorta	Aorta
45	chr9:96337600-96340400	Active TSS	H9 Cell Line	embryonic stem cell
46	chr9:96337600-96340400	Active TSS	Fetal Kidney	kidney
47	chr9:96337600-96340600	Active TSS	HSMMtube	muscle
48	chr9:96337600-96341000	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr9:96337800-96338200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr9:96337800-96338200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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