Variant report

Variant	rs7698383
Chromosome Location	chr4:103792278-103792279
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	IRF1	chr4:103789533-103793235	K562	blood:	n/a	chr4:103792312-103792322 chr4:103789825-103789839 chr4:103792396-103792407 chr4:103792306-103792326 chr4:103789561-103789575 chr4:103792312-103792326 chr4:103789560-103789569 chr4:103792311-103792325 chr4:103790423-103790437 chr4:103789927-103789940 chr4:103792311-103792325 chr4:103792312-103792325 chr4:103792394-103792408
2	RFX5	chr4:103791882-103792284	K562	blood:	n/a	n/a
3	POLR2A	chr4:103792027-103792707	K562	blood:	n/a	n/a
4	EP300	chr4:103792196-103793269	K562	blood:	n/a	chr4:103792501-103792510
5	MYC	chr4:103792198-103792340	MCF10A-Er-Src	breast:	n/a	n/a
6	TBL1XR1	chr4:103791931-103793250	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:103746553..103755574-chr4:103787108..103794302,29	MCF-7	breast:
2	chr4:103741330..103752134-chr4:103778393..103796398,92	K562	blood:
3	chr4:103679565..103681940-chr4:103791638..103794371,2	K562	blood:
4	chr4:103791034..103792845-chr4:103804270..103806826,2	K562	blood:
5	chr4:100869430..100871433-chr4:103792191..103794133,2	K562	blood:
6	chr4:100870088..100872119-chr4:103789876..103793001,3	K562	blood:
7	chr4:103736995..103756245-chr4:103778393..103800311,117	K562	blood:
8	chr4:103792090..103794720-chr4:103796684..103798750,2	K562	blood:

Variant related genes	Relation type
UBE2D3	TF binding region
ENSG00000109332	Chromatin interaction
ENSG00000245322	Chromatin interaction
ENSG00000164032	Chromatin interaction
ENSG00000246560	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17033248	1.00[CEU][hapmap]
rs17033351	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[LWK][hapmap]
rs3974625	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs6811212	1.00[CEU][hapmap]
rs6821545	1.00[CEU][hapmap]
rs6827148	1.00[CEU][hapmap]
rs6847207	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7668564	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs7670621	1.00[CEU][hapmap]
rs7670680	1.00[ASW][hapmap];1.00[CEU][hapmap]
rs7677366	1.00[ASW][hapmap];1.00[CEU][hapmap]
rs7677599	1.00[CEU][hapmap]
rs7690706	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7699703	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[LWK][hapmap]
rs9307278	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594957	chr4:103728010-103870091	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers 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	46 gene(s)	inside rSNPs	diseases
2	esv1802717	chr4:103765156-103870091	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2757946	chr4:103780705-104057321	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	esv2759270	chr4:103780705-104057321	ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv879683	chr4:103785051-103916717	Flanking Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	esv1849799	chr4:103787351-103881772	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103787600-103792600	Active TSS	GM12878-XiMat	blood
2	chr4:103790400-103793400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:103790800-103799400	Weak transcription	Spleen	Spleen
4	chr4:103791000-103793200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:103791000-103795400	Weak transcription	Lung	lung
6	chr4:103791000-103797600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:103791200-103792800	Flanking Active TSS	Dnd41	blood
8	chr4:103791200-103795800	Weak transcription	Left Ventricle	heart
9	chr4:103791200-103795800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:103791200-103797600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:103791200-103797600	Weak transcription	Aorta	Aorta
12	chr4:103791200-103798000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr4:103791200-103834800	Weak transcription	Ovary	ovary
14	chr4:103791400-103792400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:103791400-103792600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:103791400-103792600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr4:103791400-103792800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr4:103791400-103792800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr4:103791400-103792800	Enhancers	Fetal Intestine Small	intestine
20	chr4:103791400-103793000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr4:103791400-103793200	Enhancers	Primary T cells from cord blood	blood
22	chr4:103791400-103794000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr4:103791400-103794000	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:103791400-103794200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:103791400-103795400	Weak transcription	Brain Angular Gyrus	brain
26	chr4:103791400-103795800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr4:103791400-103796600	Weak transcription	Placenta	Placenta
28	chr4:103791400-103797000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr4:103791400-103797800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:103791400-103798000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:103791400-103798200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr4:103791400-103798400	Weak transcription	Fetal Brain Male	brain
33	chr4:103791400-103798800	Weak transcription	Adipose Nuclei	Adipose
34	chr4:103791400-103798800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:103791400-103800000	Weak transcription	Right Atrium	heart
36	chr4:103791400-103800200	Weak transcription	Colonic Mucosa	Colon
37	chr4:103791400-103800200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr4:103791400-103806400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr4:103791400-103806600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr4:103791400-103806800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:103791400-103818600	Weak transcription	HSMMtube	muscle
42	chr4:103791600-103792400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr4:103791600-103792400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr4:103791600-103792400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr4:103791600-103792600	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr4:103791600-103792600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr4:103791600-103793000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:103791600-103793000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr4:103791600-103793200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr4:103791600-103793400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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