Variant report

Variant	rs73846996
Chromosome Location	chr4:129752426-129752427
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	chr4:129752416-129753353	H1-neurons	neurons:	n/a	n/a
2	FOXA1	chr4:129752420-129752959	HepG2	liver:	n/a	n/a
3	MAFK	chr4:129752422-129752980	HepG2	liver:	n/a	n/a
4	REST	chr4:129752239-129753520	H1-neurons	neurons:	n/a	n/a
5	FOXA1	chr4:129752247-129752911	HepG2	liver:	n/a	n/a
6	RELA	chr4:129751938-129754356	GM18951	blood:	n/a	n/a
7	RUNX3	chr4:129751833-129752478	GM12878	blood:	n/a	n/a
8	BHLHE40	chr4:129752130-129752573	GM12878	blood:	n/a	n/a
9	POLR2A	chr4:129751812-129753954	GM12891	blood:	n/a	n/a
10	REST	chr4:129752349-129753483	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr4:129751847-129752654	H1-hESC	embryonic stem cell:	n/a	n/a
12	EBF1	chr4:129751978-129752703	GM12878	blood:	n/a	n/a
13	POLR2A	chr4:129751584-129753214	H1-hESC	embryonic stem cell:	n/a	n/a
14	WRNIP1	chr4:129752049-129752627	GM12878	blood:	n/a	n/a
15	RELA	chr4:129751922-129753648	GM19099	blood:	n/a	n/a
16	FOXA1	chr4:129752366-129752924	HepG2	liver:	n/a	n/a
17	POLR2A	chr4:129752417-129753287	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:129731357..129734214-chr4:129752200..129753715,2	K562	blood:

Variant related genes	Relation type
JADE1	TF binding region
ENSG00000077684	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17013763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17013768	1.00[AFR][1000 genomes]
rs17013784	0.91[AFR][1000 genomes]
rs17013821	0.91[AFR][1000 genomes]
rs17013884	0.83[AFR][1000 genomes]
rs56117956	0.83[AFR][1000 genomes]
rs73846995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73846998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850003	1.00[AFR][1000 genomes]
rs73850006	0.95[AFR][1000 genomes]
rs73850021	0.83[AFR][1000 genomes]
rs73850022	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	79 gene(s)	inside rSNPs	diseases
2	nsv1020801	chr4:129658178-129778086	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv537248	chr4:129658178-129778086	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv517249	chr4:129738328-129927804	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 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	chr4:129734400-129756400	Weak transcription	Aorta	Aorta
2	chr4:129746600-129752800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:129746600-129761800	Strong transcription	Dnd41	blood
4	chr4:129746800-129757000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:129746800-129770200	Weak transcription	HMEC	breast
6	chr4:129747000-129766600	Weak transcription	NHEK	skin
7	chr4:129747400-129754200	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:129747400-129756600	Weak transcription	Esophagus	oesophagus
9	chr4:129747400-129761600	Weak transcription	Placenta	Placenta
10	chr4:129748000-129761600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:129749000-129754200	Genic enhancers	H1 Cell Line	embryonic stem cell
12	chr4:129750000-129753200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:129751400-129752600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr4:129751400-129752600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:129751400-129752800	Enhancers	Lung	lung
16	chr4:129751400-129753400	Enhancers	Psoas Muscle	Psoas
17	chr4:129751400-129753600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
18	chr4:129751600-129752600	Flanking Active TSS	GM12878-XiMat	blood
19	chr4:129751600-129752800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr4:129751600-129753000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:129751600-129753000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:129751600-129753000	Enhancers	Primary B cells from peripheral blood	blood
23	chr4:129751600-129753000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr4:129751600-129753000	Genic enhancers	Thymus	Thymus
25	chr4:129751600-129753200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:129751600-129753200	Enhancers	Adipose Nuclei	Adipose
27	chr4:129751600-129753200	Enhancers	Gastric	stomach
28	chr4:129751600-129753200	Enhancers	Left Ventricle	heart
29	chr4:129751600-129753200	Enhancers	Ovary	ovary
30	chr4:129751600-129753200	Genic enhancers	K562	blood
31	chr4:129751600-129753400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr4:129751600-129753400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr4:129751600-129753400	Enhancers	Right Ventricle	heart
34	chr4:129751600-129753400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr4:129751600-129753600	Enhancers	Stomach Mucosa	stomach
36	chr4:129751600-129753800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr4:129751600-129754000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:129751600-129754200	Enhancers	Small Intestine	intestine
39	chr4:129751600-129754800	Enhancers	Pancreas	Pancrea
40	chr4:129751600-129757200	Genic enhancers	Fetal Intestine Small	intestine
41	chr4:129751800-129752600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr4:129751800-129752600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr4:129751800-129752800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr4:129751800-129752800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr4:129751800-129752800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:129751800-129752800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:129751800-129752800	Genic enhancers	HSMM	muscle
48	chr4:129751800-129752800	Enhancers	NHLF	lung
49	chr4:129751800-129753000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:129751800-129753000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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