Variant report

Variant	rs10245078
Chromosome Location	chr7:104570533-104570534
allele	C/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	chr7:104570329-104570758	MCF-7	breast:	n/a	n/a
2	GATA3	chr7:104570326-104570628	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:104568830..104571108-chr7:104573802..104575373,2	K562	blood:
2	chr7:104568710..104570758-chr7:104582213..104584004,2	MCF-7	breast:
3	chr7:104569608..104571154-chr7:104573802..104576090,2	K562	blood:

Variant related genes	Relation type
ENSG00000225329	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10215748	0.80[AMR][1000 genomes]
rs10231439	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10251106	0.95[EUR][1000 genomes]
rs10276653	0.88[ASN][1000 genomes]
rs10953459	0.89[ASN][1000 genomes]
rs11978074	0.91[ASN][1000 genomes]
rs12333765	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2891786	0.95[EUR][1000 genomes]
rs4730060	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59869531	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60551932	0.94[EUR][1000 genomes]
rs6949656	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs740068	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7795893	0.91[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	nsv831086	chr7:104422503-104596766	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104558400-104571600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:104562600-104571800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:104563800-104570800	Weak transcription	Colonic Mucosa	Colon
4	chr7:104563800-104571800	Weak transcription	Fetal Heart	heart
5	chr7:104563800-104571800	Weak transcription	Right Atrium	heart
6	chr7:104563800-104571800	Weak transcription	Hela-S3	cervix
7	chr7:104563800-104573400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr7:104564000-104571800	Weak transcription	Brain Substantia Nigra	brain
9	chr7:104564000-104571800	Weak transcription	Lung	lung
10	chr7:104564000-104572000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:104564000-104574600	Weak transcription	HSMM	muscle
12	chr7:104567200-104571000	Enhancers	Fetal Intestine Large	intestine
13	chr7:104567200-104575200	Enhancers	Fetal Intestine Small	intestine
14	chr7:104568000-104571000	Enhancers	NHEK	skin
15	chr7:104568000-104571600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:104568000-104571600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:104568000-104571600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:104568000-104571600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:104568000-104571600	Weak transcription	Pancreas	Pancrea
20	chr7:104568000-104573400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:104568200-104570600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:104568200-104571400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:104568200-104571400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:104568200-104571600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:104568200-104571600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:104568200-104571600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:104568200-104571600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr7:104568200-104571600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:104568200-104573000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:104568400-104571600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:104568400-104571600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:104568600-104570600	Weak transcription	Stomach Mucosa	stomach
33	chr7:104569400-104571000	Enhancers	HMEC	breast
34	chr7:104569400-104571600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:104569600-104571200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:104569800-104571600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:104569800-104571600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr7:104569800-104571600	Weak transcription	Gastric	stomach
39	chr7:104569800-104571800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:104569800-104580600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:104569800-104584000	Weak transcription	Esophagus	oesophagus
42	chr7:104570000-104573400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:104570200-104570800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:104570200-104573400	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr7:104570200-104573400	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr7:104570200-104574400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:104570400-104570600	Weak transcription	Primary B cells from cord blood	blood
48	chr7:104570400-104570600	Enhancers	Fetal Stomach	stomach
49	chr7:104570400-104570600	Enhancers	Spleen	Spleen
50	chr7:104570400-104570800	Enhancers	Small Intestine	intestine

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