Variant report

Variant	rs4596307
Chromosome Location	chr4:57932174-57932175
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	ZNF263	chr4:57931131-57932363	HEK293-T-REx	kidney:	n/a	n/a
2	GATA3	chr4:57930948-57932623	A549	lung:	n/a	chr4:57932038-57932049 chr4:57931199-57931211 chr4:57931202-57931209 chr4:57931191-57931208
3	MAX	chr4:57930905-57932458	A549	lung:	n/a	chr4:57931055-57931064 chr4:57931329-57931338
4	POLR2A	chr4:57931067-57932602	U87	brain:	n/a	n/a
5	POLR2A	chr4:57930255-57932698	IMR90	lung:	n/a	n/a
6	POLR2A	chr4:57931166-57932175	U87	brain:	n/a	n/a
7	POLR2A	chr4:57931697-57932352	A549	lung:	n/a	n/a
8	TCF12	chr4:57931018-57932565	A549	lung:	n/a	chr4:57932099-57932106
9	POLR2A	chr4:57932100-57932202	HUVEC	blood vessel:	n/a	n/a
10	NR3C1	chr4:57932164-57932573	A549	lung:	n/a	n/a
11	POLR2A	chr4:57931226-57932600	U87	brain:	n/a	n/a
12	POLR2A	chr4:57931201-57932175	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57929098..57931213-chr4:57932112..57933696,2	K562	blood:

Variant related genes	Relation type
IGFBP7	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11573061	1.00[CEU][hapmap]
rs1277296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17182939	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35680048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6554404	1.00[CEU][hapmap]
rs6837593	1.00[CEU][hapmap]
rs73242633	1.00[ASN][1000 genomes]
rs73242634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73242636	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7654665	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7699276	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57899600-57942200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:57918600-57936800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr4:57923800-57937200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:57926600-57932600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr4:57927000-57932600	Enhancers	Left Ventricle	heart
6	chr4:57927000-57937400	Weak transcription	Small Intestine	intestine
7	chr4:57927600-57932600	Enhancers	Right Atrium	heart
8	chr4:57928200-57932400	Enhancers	Colon Smooth Muscle	Colon
9	chr4:57928400-57932200	Enhancers	Fetal Heart	heart
10	chr4:57928400-57932600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:57928800-57932200	Enhancers	Fetal Lung	lung
12	chr4:57929000-57932400	Enhancers	Rectal Smooth Muscle	rectum
13	chr4:57929400-57932600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr4:57929600-57944400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:57929800-57932800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:57930000-57932600	Enhancers	Right Ventricle	heart
17	chr4:57930200-57932200	Enhancers	Fetal Muscle Trunk	muscle
18	chr4:57930200-57932200	Enhancers	Lung	lung
19	chr4:57930200-57932600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:57930200-57932600	Enhancers	HSMM	muscle
21	chr4:57930600-57932200	Weak transcription	Psoas Muscle	Psoas
22	chr4:57930800-57932200	Enhancers	Aorta	Aorta
23	chr4:57930800-57932200	Flanking Active TSS	NH-A	brain
24	chr4:57930800-57932400	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr4:57930800-57937400	Weak transcription	Fetal Kidney	kidney
26	chr4:57931000-57932200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:57931000-57932200	Enhancers	Fetal Muscle Leg	muscle
28	chr4:57931000-57932200	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr4:57931000-57932400	Enhancers	Brain Hippocampus Middle	brain
30	chr4:57931000-57932600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:57931000-57932600	Enhancers	Adipose Nuclei	Adipose
32	chr4:57931200-57932400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr4:57931200-57932600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr4:57931200-57932600	Enhancers	Spleen	Spleen
35	chr4:57931200-57933000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:57931200-57936000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr4:57931200-57936600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr4:57931200-57937000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr4:57931400-57932200	Enhancers	HMEC	breast
40	chr4:57931400-57932800	Enhancers	NHDF-Ad	bronchial
41	chr4:57931600-57932200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:57931600-57932400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:57931600-57932600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:57931600-57932600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:57931600-57940600	Weak transcription	Hela-S3	cervix
46	chr4:57931800-57932200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:57931800-57932200	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr4:57931800-57932200	Transcr. at gene 5' and 3'	HSMMtube	muscle
49	chr4:57931800-57932200	Flanking Active TSS	NHLF	lung
50	chr4:57931800-57932400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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