Variant report

Variant	rs73408254
Chromosome Location	chr7:102578462-102578463
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	MYC	chr7:102578284-102578482	K562	blood:	n/a	chr7:102578381-102578390
2	GATA3	chr7:102578023-102578579	SH-SY5Y	brain:	n/a	chr7:102578370-102578377

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102574165..102576650-chr7:102576864..102579530,2	K562	blood:
2	chr7:102574165..102576596-chr7:102576864..102579639,2	K562	blood:

Variant related genes	Relation type
FBXL13	TF binding region
ENSG00000161040	Chromatin interaction
ENSG00000128606	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10229137	1.00[EUR][1000 genomes]
rs10230292	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10230700	1.00[AMR][1000 genomes]
rs10240546	1.00[EUR][1000 genomes]
rs10260344	1.00[EUR][1000 genomes]
rs10264869	1.00[EUR][1000 genomes]
rs10268849	1.00[EUR][1000 genomes]
rs10808123	1.00[EUR][1000 genomes]
rs10808124	1.00[EUR][1000 genomes]
rs10808125	1.00[EUR][1000 genomes]
rs10808127	1.00[EUR][1000 genomes]
rs11560367	1.00[EUR][1000 genomes]
rs11760826	1.00[EUR][1000 genomes]
rs11765948	1.00[EUR][1000 genomes]
rs11772979	1.00[EUR][1000 genomes]
rs11773883	1.00[EUR][1000 genomes]
rs11981558	1.00[EUR][1000 genomes]
rs12155099	1.00[EUR][1000 genomes]
rs13225565	1.00[EUR][1000 genomes]
rs13226097	1.00[EUR][1000 genomes]
rs13242079	1.00[EUR][1000 genomes]
rs13247932	1.00[EUR][1000 genomes]
rs1404213	1.00[EUR][1000 genomes]
rs1477159	1.00[EUR][1000 genomes]
rs1477161	1.00[EUR][1000 genomes]
rs1477162	1.00[EUR][1000 genomes]
rs1477163	1.00[EUR][1000 genomes]
rs1558853	1.00[EUR][1000 genomes]
rs1861725	1.00[EUR][1000 genomes]
rs1861726	1.00[EUR][1000 genomes]
rs1861728	1.00[EUR][1000 genomes]
rs1861730	1.00[EUR][1000 genomes]
rs1861732	1.00[EUR][1000 genomes]
rs1968198	1.00[EUR][1000 genomes]
rs1968199	1.00[EUR][1000 genomes]
rs1968202	1.00[EUR][1000 genomes]
rs1974715	1.00[EUR][1000 genomes]
rs1974716	1.00[EUR][1000 genomes]
rs2015289	1.00[EUR][1000 genomes]
rs2041949	1.00[EUR][1000 genomes]
rs2098447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2193418	1.00[EUR][1000 genomes]
rs2411079	1.00[EUR][1000 genomes]
rs2411081	1.00[EUR][1000 genomes]
rs2411082	1.00[EUR][1000 genomes]
rs2898640	1.00[EUR][1000 genomes]
rs3181009	1.00[EUR][1000 genomes]
rs4295594	1.00[EUR][1000 genomes]
rs4530973	1.00[EUR][1000 genomes]
rs4727560	1.00[EUR][1000 genomes]
rs4727561	1.00[EUR][1000 genomes]
rs4729868	1.00[EUR][1000 genomes]
rs4729869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729870	1.00[EUR][1000 genomes]
rs4729871	1.00[EUR][1000 genomes]
rs4729872	1.00[EUR][1000 genomes]
rs4729875	1.00[EUR][1000 genomes]
rs4729876	1.00[EUR][1000 genomes]
rs4729878	1.00[EUR][1000 genomes]
rs4729882	1.00[EUR][1000 genomes]
rs4729883	1.00[EUR][1000 genomes]
rs4729884	1.00[EUR][1000 genomes]
rs56938507	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57013410	1.00[EUR][1000 genomes]
rs57055721	1.00[EUR][1000 genomes]
rs61187383	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61676871	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6465891	1.00[EUR][1000 genomes]
rs6465892	1.00[EUR][1000 genomes]
rs6465898	1.00[EUR][1000 genomes]
rs6465902	1.00[EUR][1000 genomes]
rs6465905	1.00[EUR][1000 genomes]
rs6944809	1.00[EUR][1000 genomes]
rs6945578	1.00[EUR][1000 genomes]
rs6946968	1.00[EUR][1000 genomes]
rs6946989	1.00[EUR][1000 genomes]
rs6947777	1.00[EUR][1000 genomes]
rs6950177	1.00[EUR][1000 genomes]
rs6955436	1.00[EUR][1000 genomes]
rs6959711	1.00[EUR][1000 genomes]
rs6964822	1.00[EUR][1000 genomes]
rs6966872	1.00[EUR][1000 genomes]
rs6966961	1.00[EUR][1000 genomes]
rs6968559	1.00[EUR][1000 genomes]
rs6973702	1.00[EUR][1000 genomes]
rs6973787	1.00[EUR][1000 genomes]
rs6976034	1.00[EUR][1000 genomes]
rs6976290	1.00[EUR][1000 genomes]
rs6976794	1.00[EUR][1000 genomes]
rs6977206	1.00[EUR][1000 genomes]
rs6979140	1.00[EUR][1000 genomes]
rs6979470	1.00[EUR][1000 genomes]
rs73406252	1.00[EUR][1000 genomes]
rs73408205	1.00[EUR][1000 genomes]
rs73408207	1.00[EUR][1000 genomes]
rs73408209	1.00[EUR][1000 genomes]
rs73408210	1.00[EUR][1000 genomes]
rs73408223	1.00[EUR][1000 genomes]
rs73408251	1.00[EUR][1000 genomes]
rs73408255	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73408259	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73408285	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73408286	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73410119	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73410129	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73410143	1.00[EUR][1000 genomes]
rs7349957	1.00[EUR][1000 genomes]
rs7350051	1.00[EUR][1000 genomes]
rs7782147	1.00[EUR][1000 genomes]
rs7783856	1.00[EUR][1000 genomes]
rs7784337	1.00[EUR][1000 genomes]
rs7792240	1.00[EUR][1000 genomes]
rs7800789	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7807900	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9691829	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv464667	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv608060	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats 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	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102571400-102579600	Genic enhancers	HSMM	muscle
2	chr7:102571600-102581800	Weak transcription	Fetal Intestine Small	intestine
3	chr7:102571800-102579400	Weak transcription	Left Ventricle	heart
4	chr7:102573400-102578600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr7:102573400-102579400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:102573400-102579800	Genic enhancers	Fetal Lung	lung
7	chr7:102573800-102591400	Weak transcription	Pancreas	Pancrea
8	chr7:102574000-102592200	Weak transcription	Fetal Intestine Large	intestine
9	chr7:102574200-102579600	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:102574400-102578800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:102574600-102594400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:102574800-102579800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:102575000-102584400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr7:102575000-102586000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:102575000-102586800	Weak transcription	NHLF	lung
16	chr7:102575400-102578600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:102575400-102578800	Weak transcription	Small Intestine	intestine
18	chr7:102575400-102587000	Strong transcription	NH-A	brain
19	chr7:102575600-102578800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:102575600-102578800	Weak transcription	Liver	Liver
21	chr7:102575600-102579000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:102575600-102579400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr7:102575600-102581600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:102575600-102583000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:102575600-102585200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:102575600-102586800	Weak transcription	Osteobl	bone
27	chr7:102576000-102579800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr7:102576800-102579400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:102576800-102582000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:102576800-102582400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr7:102576800-102582400	Weak transcription	NHDF-Ad	bronchial
32	chr7:102576800-102584000	Weak transcription	Fetal Muscle Leg	muscle
33	chr7:102576800-102584200	Weak transcription	Aorta	Aorta
34	chr7:102577000-102578600	Weak transcription	HSMMtube	muscle
35	chr7:102577000-102579400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr7:102577000-102579400	Weak transcription	Ovary	ovary
37	chr7:102577000-102579400	Weak transcription	K562	blood
38	chr7:102577000-102582400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:102577000-102582800	Weak transcription	Right Atrium	heart
40	chr7:102577200-102579000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:102577200-102582400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr7:102577400-102578800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr7:102577400-102579400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr7:102577400-102582400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:102577600-102578800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:102577600-102579000	Weak transcription	Fetal Stomach	stomach
47	chr7:102577600-102579400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:102577600-102587400	Weak transcription	Fetal Kidney	kidney
49	chr7:102577800-102586400	Weak transcription	Fetal Brain Male	brain
50	chr7:102578000-102578600	Enhancers	H1 Cell Line	embryonic stem cell

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