Variant report

Variant	rs230511
Chromosome Location	chr4:103474768-103474769
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	chr4:103474746-103474993	SH-SY5Y	brain:	n/a	chr4:103474869-103474885
2	GATA3	chr4:103474675-103475173	MCF-7	breast:	n/a	chr4:103474869-103474885
3	GATA3	chr4:103474610-103475122	SK-N-SH	brain:	n/a	chr4:103474869-103474885
4	GATA3	chr4:103474576-103475152	SK-N-SH	brain:	n/a	chr4:103474869-103474885
5	GATA3	chr4:103474665-103475148	MCF-7	breast:	n/a	chr4:103474869-103474885

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:103474531..103476175-chr4:103477255..103478902,2	MCF-7	breast:
2	chr4:103474292..103476069-chr4:103481101..103483068,2	MCF-7	breast:

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

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11722146	0.81[CEU][hapmap]
rs11723120	0.84[CEU][hapmap]
rs118882	1.00[CEU][hapmap]
rs12509517	0.81[CEU][hapmap]
rs1585215	1.00[CEU][hapmap]
rs1598859	0.88[CEU][hapmap]
rs170731	1.00[CEU][hapmap]
rs1801	0.86[CEU][hapmap]
rs230491	0.92[CEU][hapmap]
rs230492	0.92[CEU][hapmap]
rs230493	0.92[CEU][hapmap]
rs230498	0.88[CEU][hapmap]
rs230500	0.88[CEU][hapmap]
rs230504	0.92[CEU][hapmap]
rs230509	1.00[CEU][hapmap]
rs230514	1.00[CEU][hapmap]
rs230515	1.00[CEU][hapmap]
rs230516	1.00[CEU][hapmap]
rs230519	1.00[CEU][hapmap]
rs230520	1.00[CEU][hapmap]
rs230525	0.96[CEU][hapmap]
rs230531	1.00[CEU][hapmap]
rs230532	1.00[CEU][hapmap]
rs230533	0.92[CEU][hapmap]
rs230534	1.00[CEU][hapmap]
rs230535	0.96[CEU][hapmap]
rs230539	0.96[CEU][hapmap]
rs230540	0.96[CEU][hapmap]
rs230542	1.00[CEU][hapmap]
rs3774936	1.00[CEU][hapmap]
rs3774937	1.00[CEU][hapmap]
rs3774959	0.88[CEU][hapmap]
rs4235404	1.00[CEU][hapmap]
rs4648055	0.88[CEU][hapmap]
rs4648133	0.88[CEU][hapmap]
rs4698861	0.83[CEU][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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103440000-103484800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:103440200-103478600	Weak transcription	Right Ventricle	heart
3	chr4:103440200-103488200	Weak transcription	Gastric	stomach
4	chr4:103441400-103482000	Weak transcription	Spleen	Spleen
5	chr4:103443200-103496000	Weak transcription	A549	lung
6	chr4:103445000-103496600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:103456800-103475600	Weak transcription	Brain Anterior Caudate	brain
8	chr4:103457200-103474800	Weak transcription	NHLF	lung
9	chr4:103458000-103475200	Weak transcription	NHDF-Ad	bronchial
10	chr4:103461200-103474800	Weak transcription	Osteobl	bone
11	chr4:103461200-103487800	Weak transcription	Colonic Mucosa	Colon
12	chr4:103461200-103490400	Weak transcription	Dnd41	blood
13	chr4:103461600-103485400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:103461600-103496400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:103463200-103481800	Weak transcription	Fetal Thymus	thymus
16	chr4:103464600-103488200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:103466600-103481200	Weak transcription	Fetal Intestine Small	intestine
18	chr4:103466800-103498600	Weak transcription	Placenta	Placenta
19	chr4:103467000-103475200	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:103467000-103495600	Weak transcription	HepG2	liver
21	chr4:103467200-103485400	Weak transcription	HMEC	breast
22	chr4:103468800-103490400	Weak transcription	Stomach Mucosa	stomach
23	chr4:103469600-103498000	Weak transcription	Esophagus	oesophagus
24	chr4:103469800-103481200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr4:103470000-103474800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:103470000-103480800	Weak transcription	Lung	lung
27	chr4:103470000-103482600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr4:103470000-103483000	Weak transcription	Pancreas	Pancrea
29	chr4:103470000-103485400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:103470000-103485400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:103470000-103485400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr4:103470000-103498000	Weak transcription	Fetal Stomach	stomach
33	chr4:103470200-103474800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:103470200-103478600	Weak transcription	Left Ventricle	heart
35	chr4:103470400-103475200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr4:103470400-103482000	Weak transcription	Ovary	ovary
37	chr4:103470800-103484000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr4:103471400-103475800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr4:103471600-103475400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr4:103472400-103475600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr4:103472600-103475600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr4:103472600-103480600	Weak transcription	Right Atrium	heart
43	chr4:103472800-103475800	Weak transcription	Adipose Nuclei	Adipose
44	chr4:103473000-103475000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr4:103473000-103475200	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr4:103473000-103475400	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr4:103473000-103476200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr4:103473200-103475000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr4:103473200-103475000	Enhancers	HUVEC	blood vessel
50	chr4:103473200-103475200	Enhancers	Hela-S3	cervix

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