Variant report

Variant	rs740309
Chromosome Location	chr7:105456869-105456870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr7:105456572-105456973	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:105446426..105449323-chr7:105454284..105457233,3	MCF-7	breast:
2	chr7:105456730..105459355-chr7:105465171..105468141,4	K562	blood:
3	chr7:105456255..105458497-chr7:105460627..105462300,2	K562	blood:
4	chr7:105456730..105459355-chr7:105466256..105468141,2	K562	blood:
5	chr7:105455934..105458795-chr7:105459521..105461021,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226624	TF binding region
ENSG00000226624	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10229491	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2108324	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212412	0.94[ASW][hapmap];0.93[LWK][hapmap];0.96[MKK][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs212413	0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs212414	1.00[CHB][hapmap]
rs4727628	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740307	1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781203	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[LWK][hapmap];0.94[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7792471	1.00[CHB][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886797	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.96[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	nsv1027213	chr7:105438610-106022869	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105430200-105479200	Weak transcription	Aorta	Aorta
2	chr7:105441200-105457200	Weak transcription	Fetal Lung	lung
3	chr7:105446400-105471200	Weak transcription	Lung	lung
4	chr7:105446800-105457200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:105446800-105470000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:105446800-105470200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:105446800-105471200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:105447000-105470000	Weak transcription	Ovary	ovary
9	chr7:105447200-105457000	Weak transcription	Gastric	stomach
10	chr7:105447200-105470200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:105447600-105470000	Weak transcription	NH-A	brain
12	chr7:105447800-105457000	Weak transcription	Spleen	Spleen
13	chr7:105447800-105470600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:105448000-105460000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:105448200-105460800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:105448600-105465000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:105448800-105463200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:105448800-105470400	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:105449000-105479200	Weak transcription	Esophagus	oesophagus
20	chr7:105449600-105458000	Weak transcription	Fetal Thymus	thymus
21	chr7:105450200-105466400	Weak transcription	NHLF	lung
22	chr7:105450400-105457400	Weak transcription	Primary T cells from cord blood	blood
23	chr7:105450400-105460000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:105450400-105470200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:105450800-105457000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:105450800-105459000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:105450800-105463200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr7:105450800-105470200	Weak transcription	NHEK	skin
29	chr7:105451200-105462600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr7:105451600-105462000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:105452400-105457800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr7:105452400-105464600	Weak transcription	Fetal Intestine Large	intestine
33	chr7:105452400-105467400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:105452400-105471200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr7:105452600-105460000	Weak transcription	Fetal Stomach	stomach
36	chr7:105452600-105470800	Weak transcription	Small Intestine	intestine
37	chr7:105452600-105471200	Weak transcription	Right Ventricle	heart
38	chr7:105452800-105465800	Weak transcription	Liver	Liver
39	chr7:105452800-105470400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr7:105454400-105458200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr7:105454600-105457600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:105455400-105457800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:105455400-105458800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr7:105455600-105457800	Enhancers	Colon Smooth Muscle	Colon
45	chr7:105455600-105457800	Enhancers	GM12878-XiMat	blood
46	chr7:105455800-105457000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr7:105455800-105457200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:105455800-105457600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:105456000-105457200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr7:105456000-105457200	Enhancers	Cortex derived primary cultured neurospheres	brain

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