Variant report

Variant	rs115284105
Chromosome Location	chr9:103234849-103234850
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	JUND	chr9:103234693-103235208	K562	blood:	n/a	n/a
2	BACH1	chr9:103234832-103234981	K562	blood:	n/a	n/a
3	USF2	chr9:103234774-103235483	H1-hESC	embryonic stem cell:	n/a	n/a
4	REST	chr9:103234842-103237848	H1-neurons	neurons:	n/a	chr9:103235650-103235663 chr9:103235342-103235352 chr9:103235674-103235687 chr9:103235709-103235722 chr9:103235355-103235368 chr9:103235779-103235792 chr9:103236454-103236467
5	RCOR1	chr9:103234552-103236193	K562	blood:	n/a	n/a
6	ZNF143	chr9:103234567-103234930	K562	blood:	n/a	n/a
7	SIN3A	chr9:103234799-103237492	H1-hESC	embryonic stem cell:	n/a	chr9:103235709-103235722 chr9:103236454-103236465 chr9:103235650-103235663 chr9:103236454-103236467 chr9:103237260-103237273
8	TAL1	chr9:103234575-103234868	K562	blood:	n/a	n/a
9	CBX3	chr9:103234508-103234883	K562	blood:	n/a	n/a
10	JUND	chr9:103234792-103235436	H1-hESC	embryonic stem cell:	n/a	chr9:103235362-103235371
11	E2F6	chr9:103234661-103236229	K562	blood:	n/a	chr9:103235201-103235212 chr9:103235800-103235812
12	EP300	chr9:103234591-103235113	K562	blood:	n/a	n/a
13	E2F6	chr9:103234661-103235484	H1-hESC	embryonic stem cell:	n/a	chr9:103235201-103235212
14	MAX	chr9:103234839-103235649	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr9:103234672-103236498	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAZ	chr9:103234598-103236961	IMR90	lung:	n/a	chr9:103235778-103235788 chr9:103236482-103236497

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:67 , 50 per page) page: 1 2

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	chr9:103218200-103235000	Weak transcription	NHLF	lung
4	chr9:103218400-103235000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:103228800-103235000	Weak transcription	Adipose Nuclei	Adipose
6	chr9:103229000-103235000	Weak transcription	Pancreas	Pancrea
7	chr9:103229400-103235000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr9:103230200-103235000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr9:103232200-103235000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:103232200-103235000	Weak transcription	Psoas Muscle	Psoas
11	chr9:103232200-103235400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr9:103232800-103235000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr9:103234600-103235000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr9:103234600-103235000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr9:103234600-103235000	Enhancers	Brain Substantia Nigra	brain
16	chr9:103234600-103235000	Enhancers	Fetal Thymus	thymus
17	chr9:103234600-103235200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr9:103234600-103235200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr9:103234600-103235200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr9:103234600-103235200	Flanking Active TSS	K562	blood
21	chr9:103234600-103235400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:103234600-103236600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:103234600-103237400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr9:103234600-103237400	Active TSS	Fetal Kidney	kidney
25	chr9:103234800-103235000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr9:103234800-103235000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:103234800-103235000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:103234800-103235000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr9:103234800-103235000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr9:103234800-103235000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
31	chr9:103234800-103235000	Flanking Active TSS	Brain Angular Gyrus	brain
32	chr9:103234800-103235000	Flanking Active TSS	Fetal Brain Female	brain
33	chr9:103234800-103235000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
34	chr9:103234800-103235000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
35	chr9:103234800-103235000	Enhancers	Rectal Smooth Muscle	rectum
36	chr9:103234800-103235000	Enhancers	Right Atrium	heart
37	chr9:103234800-103235000	Enhancers	A549	lung
38	chr9:103234800-103235000	Bivalent Enhancer	HepG2	liver
39	chr9:103234800-103235000	Enhancers	HUVEC	blood vessel
40	chr9:103234800-103235200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
41	chr9:103234800-103235200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
42	chr9:103234800-103235200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:103234800-103235200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr9:103234800-103235200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr9:103234800-103235200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr9:103234800-103235200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
47	chr9:103234800-103235200	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr9:103234800-103235200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr9:103234800-103235200	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr9:103234800-103235200	Flanking Active TSS	Brain Hippocampus Middle	brain

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