Variant report

Variant	rs4648023
Chromosome Location	chr4:103497054-103497055
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	GATA3	chr4:103496860-103497313	T-47D	breast:	n/a	chr4:103497154-103497165
2	FOXA2	chr4:103497009-103497201	HepG2	liver:	n/a	n/a
3	GATA3	chr4:103496928-103497190	T-47D	breast:	n/a	chr4:103497154-103497165
4	GATA3	chr4:103496681-103497439	SK-N-SH	brain:	n/a	chr4:103497154-103497165
5	GATA3	chr4:103496646-103497531	MCF-7	breast:	n/a	chr4:103497154-103497165
6	MAFK	chr4:103496978-103497209	HepG2	liver:	n/a	chr4:103497051-103497066
7	GATA2	chr4:103496832-103497246	HUVEC	blood vessel:	n/a	chr4:103497087-103497101 chr4:103497154-103497165
8	GATA3	chr4:103496954-103497139	SH-SY5Y	brain:	n/a	n/a
9	STAT3	chr4:103496943-103497235	Hela-S3	cervix:	n/a	n/a
10	TCF12	chr4:103496915-103497357	SK-N-SH	brain:	n/a	n/a
11	TCF12	chr4:103496809-103497439	A549	lung:	n/a	n/a
12	GATA3	chr4:103496682-103497489	A549	lung:	n/a	chr4:103497154-103497165
13	ARID3A	chr4:103497012-103497331	HepG2	liver:	n/a	n/a
14	STAT3	chr4:103497023-103497158	MCF10A-Er-Src	breast:	n/a	n/a
15	ZNF217	chr4:103496896-103497126	MCF-7	breast:	n/a	n/a
16	EP300	chr4:103496865-103497197	HepG2	liver:	n/a	n/a
17	FOXA1	chr4:103496879-103497218	T-47D	breast:	n/a	n/a
18	GATA3	chr4:103496850-103497226	A549	lung:	n/a	chr4:103497154-103497165
19	GATA3	chr4:103496885-103497137	MCF-7	breast:	n/a	n/a
20	GATA3	chr4:103496775-103497429	MCF-7	breast:	n/a	chr4:103497154-103497165
21	MAFK	chr4:103496912-103497186	HepG2	liver:	n/a	chr4:103497051-103497066
22	FOXA1	chr4:103496916-103497317	HepG2	liver:	n/a	n/a
23	GATA3	chr4:103496584-103497497	SK-N-SH	brain:	n/a	chr4:103497154-103497165
24	GATA3	chr4:103496915-103497257	MCF-7	breast:	n/a	chr4:103497154-103497165

No.	Distal block	Cell Line	Cell type
1	chr4:103495819..103498669-chr4:103504146..103506135,2	MCF-7	breast:
2	chr4:103489104..103492778-chr4:103495068..103498574,4	MCF-7	breast:
3	chr4:103419957..103425638-chr4:103495824..103504548,11	MCF-7	breast:

Variant related genes	Relation type
NFKB1	TF binding region
ENSG00000260651	Chromatin interaction
ENSG00000109320	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17033168	1.00[CHB][hapmap]
rs4647991	1.00[YRI][hapmap]

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	nsv830020	chr4:103387343-103581284	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1003490	chr4:103391483-103521772	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1004030	chr4:103419352-103504042	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv537203	chr4:103419352-103504042	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103466800-103498600	Weak transcription	Placenta	Placenta
2	chr4:103469600-103498000	Weak transcription	Esophagus	oesophagus
3	chr4:103470000-103498000	Weak transcription	Fetal Stomach	stomach
4	chr4:103473400-103524600	Weak transcription	Fetal Brain Male	brain
5	chr4:103473600-103498000	Weak transcription	Aorta	Aorta
6	chr4:103476000-103498200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:103476400-103498000	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:103476400-103498200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr4:103478200-103511800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:103478600-103498200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:103479200-103497800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:103482200-103498000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:103482200-103498800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr4:103482400-103498600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr4:103482800-103497800	Weak transcription	Fetal Intestine Large	intestine
16	chr4:103482800-103498000	Weak transcription	Fetal Intestine Small	intestine
17	chr4:103482800-103498200	Weak transcription	Brain Anterior Caudate	brain
18	chr4:103483000-103518600	Weak transcription	Small Intestine	intestine
19	chr4:103483200-103498000	Weak transcription	Right Ventricle	heart
20	chr4:103483200-103516600	Weak transcription	Brain Angular Gyrus	brain
21	chr4:103483400-103497800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr4:103483400-103498000	Weak transcription	Pancreas	Pancrea
23	chr4:103483400-103498200	Weak transcription	Left Ventricle	heart
24	chr4:103483400-103498200	Weak transcription	Ovary	ovary
25	chr4:103483400-103541600	Weak transcription	K562	blood
26	chr4:103484000-103498000	Weak transcription	Spleen	Spleen
27	chr4:103486000-103498000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:103486000-103498000	Weak transcription	Liver	Liver
29	chr4:103486000-103498000	Weak transcription	HSMMtube	muscle
30	chr4:103486400-103497800	Weak transcription	Colon Smooth Muscle	Colon
31	chr4:103486600-103498200	Weak transcription	Brain Hippocampus Middle	brain
32	chr4:103488200-103520000	Weak transcription	Fetal Kidney	kidney
33	chr4:103488400-103498000	Weak transcription	Colonic Mucosa	Colon
34	chr4:103488400-103498800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:103488600-103498000	Weak transcription	Lung	lung
36	chr4:103488600-103498000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr4:103488600-103498200	Weak transcription	Gastric	stomach
38	chr4:103488600-103498800	Weak transcription	Fetal Heart	heart
39	chr4:103488600-103498800	Weak transcription	Psoas Muscle	Psoas
40	chr4:103488800-103497600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr4:103488800-103498000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr4:103488800-103498000	Weak transcription	NHDF-Ad	bronchial
43	chr4:103489000-103497600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr4:103489000-103498000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:103489000-103498800	Weak transcription	HSMM	muscle
46	chr4:103489600-103498000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr4:103489800-103498000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:103490000-103498000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr4:103490600-103498000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:103490600-103498000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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