Variant report

Variant	rs4899108
Chromosome Location	chr14:63671234-63671235
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	POLR2A	chr14:63670727-63671298	HUVEC	blood vessel:	n/a	n/a
2	FOS	chr14:63670329-63671365	HUVEC	blood vessel:	n/a	chr14:63670772-63670782 chr14:63670772-63670782 chr14:63671342-63671354 chr14:63670788-63670797 chr14:63670772-63670782 chr14:63670773-63670781 chr14:63670772-63670782
3	POLR2A	chr14:63670664-63671910	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr14:63670354-63671843	IMR90	lung:	n/a	n/a
5	POLR2A	chr14:63670622-63671289	SK-N-SH	brain:	n/a	n/a
6	NFIC	chr14:63670578-63671395	SK-N-SH	brain:	n/a	n/a
7	MAX	chr14:63670668-63671273	SK-N-SH	brain:	n/a	n/a
8	TCF12	chr14:63670427-63671364	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr14:63670591-63671798	HUVEC	blood vessel:	n/a	n/a
10	ELF1	chr14:63670704-63671246	MCF-7	breast:	n/a	chr14:63670945-63670956
11	POLR2A	chr14:63670340-63673661	HUVEC	blood vessel:	n/a	n/a
12	GATA2	chr14:63670665-63673047	HUVEC	blood vessel:	n/a	chr14:63672690-63672704 chr14:63670893-63670900
13	CTCF	chr14:63671180-63671330	HepG2	liver:	n/a	n/a
14	REST	chr14:63670479-63671951	H1-neurons	neurons:	n/a	n/a
15	TCF12	chr14:63670435-63671271	SK-N-SH	brain:	n/a	n/a
16	CTCF	chr14:63670793-63671287	IMR90	lung:	n/a	chr14:63670887-63670895
17	POLR2A	chr14:63670358-63672250	HUVEC	blood vessel:	n/a	n/a
18	EP300	chr14:63670520-63671348	SK-N-SH	brain:	n/a	chr14:63670947-63670956
19	YY1	chr14:63670730-63671336	SK-N-SH	brain:	n/a	chr14:63671081-63671097
20	POLR2A	chr14:63670539-63672083	HUVEC	blood vessel:	n/a	n/a
21	FOXA1	chr14:63670717-63671241	HepG2	liver:	n/a	n/a
22	POLR2A	chr14:63670713-63671354	SK-N-MC	brain:	n/a	n/a
23	POLR2A	chr14:63671201-63671323	ProgFib	skin:	n/a	n/a
24	CTCF	chr14:63671100-63671250	HAc	cerebellar:	n/a	n/a
25	ELF1	chr14:63670779-63671258	HepG2	liver:	n/a	chr14:63670945-63670956
26	GATA3	chr14:63670573-63671260	SK-N-SH	brain:	n/a	chr14:63670893-63670900
27	REST	chr14:63670582-63671363	H1-neurons	neurons:	n/a	n/a
28	FOSL2	chr14:63670471-63671258	SK-N-SH	brain:	n/a	chr14:63670772-63670782 chr14:63670772-63670782 chr14:63670788-63670797 chr14:63670772-63670782 chr14:63670773-63670781 chr14:63670772-63670782
29	JUN	chr14:63670606-63671303	HUVEC	blood vessel:	n/a	chr14:63670772-63670782 chr14:63670772-63670782 chr14:63670788-63670797 chr14:63670772-63670782 chr14:63670773-63670781 chr14:63670772-63670782 chr14:63670784-63670797
30	YY1	chr14:63670749-63671245	SK-N-SH_RA	brain:	n/a	chr14:63671081-63671097
31	KAP1	chr14:63670492-63671595	HEK293	kidney:	n/a	n/a
32	POLR2A	chr14:63670620-63672266	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
RHOJ	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

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	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv564893	chr14:63526931-63796122	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1045599	chr14:63540073-63765152	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv902017	chr14:63604188-63674832	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4899108	RHOJ	cis	parietal	SCAN

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63670200-63671400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr14:63670200-63671400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr14:63670200-63671400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr14:63670200-63671400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:63670200-63671400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:63670200-63671400	Active TSS	NHLF	lung
7	chr14:63670200-63673400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:63670200-63673400	Active TSS	Aorta	Aorta
9	chr14:63670200-63673400	Active TSS	Ovary	ovary
10	chr14:63670400-63671400	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr14:63670400-63671600	Flanking Active TSS	Fetal Heart	heart
12	chr14:63670400-63671800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:63670400-63671800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:63670400-63672000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:63670400-63672800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:63670400-63673000	Active TSS	Brain Angular Gyrus	brain
17	chr14:63670400-63673600	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr14:63670400-63674600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:63670400-63674600	Active TSS	Psoas Muscle	Psoas
20	chr14:63670400-63674600	Active TSS	Right Atrium	heart
21	chr14:63670400-63674600	Active TSS	Stomach Smooth Muscle	stomach
22	chr14:63670600-63671400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:63670600-63671400	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr14:63670600-63671600	Active TSS	Fetal Muscle Leg	muscle
25	chr14:63670600-63671600	Active TSS	NHDF-Ad	bronchial
26	chr14:63670600-63672000	Active TSS	Brain Substantia Nigra	brain
27	chr14:63670600-63672000	Flanking Active TSS	HMEC	breast
28	chr14:63670600-63672800	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr14:63670600-63673000	Active TSS	Fetal Kidney	kidney
30	chr14:63670600-63673200	Active TSS	Fetal Lung	lung
31	chr14:63670600-63673400	Active TSS	Rectal Smooth Muscle	rectum
32	chr14:63670600-63673400	Active TSS	NH-A	brain
33	chr14:63670600-63674000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:63670600-63674000	Active TSS	Fetal Stomach	stomach
35	chr14:63670600-63674600	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr14:63670800-63671400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr14:63670800-63671400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr14:63670800-63671400	Active TSS	Brain Cingulate Gyrus	brain
39	chr14:63670800-63671400	Active TSS	Brain Hippocampus Middle	brain
40	chr14:63670800-63671400	Active TSS	Pancreas	Pancrea
41	chr14:63670800-63671600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr14:63670800-63671600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:63670800-63671600	Active TSS	Liver	Liver
44	chr14:63670800-63671600	Active TSS	Brain Germinal Matrix	brain
45	chr14:63670800-63671600	Enhancers	Gastric	stomach
46	chr14:63670800-63671600	Active TSS	HSMMtube	muscle
47	chr14:63670800-63671800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
48	chr14:63670800-63671800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr14:63670800-63671800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr14:63670800-63671800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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