Variant report

Variant	rs141822654
Chromosome Location	chr9:103234783-103234784
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	JUND	chr9:103234693-103235208	K562	blood:	n/a	n/a
2	USF2	chr9:103234774-103235483	H1-hESC	embryonic stem cell:	n/a	n/a
3	RCOR1	chr9:103234552-103236193	K562	blood:	n/a	n/a
4	ZNF143	chr9:103234567-103234930	K562	blood:	n/a	n/a
5	TAL1	chr9:103234575-103234868	K562	blood:	n/a	n/a
6	CBX3	chr9:103234508-103234883	K562	blood:	n/a	n/a
7	E2F6	chr9:103234661-103236229	K562	blood:	n/a	chr9:103235201-103235212 chr9:103235800-103235812
8	EP300	chr9:103234591-103235113	K562	blood:	n/a	n/a
9	E2F6	chr9:103234661-103235484	H1-hESC	embryonic stem cell:	n/a	chr9:103235201-103235212
10	POLR2A	chr9:103234672-103236498	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAZ	chr9:103234598-103236961	IMR90	lung:	n/a	chr9:103235778-103235788 chr9:103236482-103236497
12	ELF1	chr9:103234584-103234808	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:103187999..103190908-chr9:103233595..103236918,6	MCF-7	breast:
2	chr9:103188255..103190992-chr9:103234182..103236159,2	MCF-7	breast:
3	chr9:103113352..103115792-chr9:103234740..103236804,2	K562	blood:

Variant related genes	Relation type
TMEFF1	TF binding region
ENSG00000066697	Chromatin interaction
ENSG00000136891	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	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv825012	chr9:103152205-103256281	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv614955	chr9:103181596-103261227	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv3348068	chr9:103234431-103236904	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3376333	chr9:103234756-103237304	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103216600-103235000	Weak transcription	Aorta	Aorta
2	chr9:103216800-103235000	Weak transcription	Fetal Muscle Leg	muscle
3	chr9:103217000-103234800	Weak transcription	Fetal Brain Female	brain
4	chr9:103217200-103234800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:103218200-103235000	Weak transcription	NHLF	lung
6	chr9:103218400-103235000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:103220200-103234800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:103228800-103235000	Weak transcription	Adipose Nuclei	Adipose
9	chr9:103229000-103235000	Weak transcription	Pancreas	Pancrea
10	chr9:103229400-103235000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr9:103230000-103234800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr9:103230200-103234800	Weak transcription	Brain Anterior Caudate	brain
13	chr9:103230200-103235000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr9:103230400-103234800	Weak transcription	Brain Angular Gyrus	brain
15	chr9:103231600-103234800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr9:103231800-103234800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr9:103232200-103235000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:103232200-103235000	Weak transcription	Psoas Muscle	Psoas
19	chr9:103232200-103235400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr9:103232400-103234800	Weak transcription	Brain Hippocampus Middle	brain
21	chr9:103232800-103235000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr9:103233000-103234800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr9:103234400-103234800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr9:103234400-103234800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr9:103234400-103234800	Bivalent Enhancer	Primary B cells from cord blood	blood
26	chr9:103234600-103234800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr9:103234600-103234800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr9:103234600-103234800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr9:103234600-103234800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:103234600-103234800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr9:103234600-103234800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr9:103234600-103234800	Enhancers	Primary hematopoietic stem cells	blood
33	chr9:103234600-103234800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr9:103234600-103234800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr9:103234600-103234800	Enhancers	Colon Smooth Muscle	Colon
36	chr9:103234600-103234800	Enhancers	HepG2	liver
37	chr9:103234600-103235000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
38	chr9:103234600-103235000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr9:103234600-103235000	Enhancers	Brain Substantia Nigra	brain
40	chr9:103234600-103235000	Enhancers	Fetal Thymus	thymus
41	chr9:103234600-103235200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr9:103234600-103235200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr9:103234600-103235200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr9:103234600-103235200	Flanking Active TSS	K562	blood
45	chr9:103234600-103235400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:103234600-103236600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr9:103234600-103237400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr9:103234600-103237400	Active TSS	Fetal Kidney	kidney

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