Variant report

Variant	rs10276110
Chromosome Location	chr7:71217136-71217137
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:71217131..71217801-chr7:72100027..72100693,2	MCF-7	breast:
2	chr7:71216886..71217682-chr7:71958728..71959690,3	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10232040	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10235229	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10240970	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10241300	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10245120	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10245516	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10246379	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10254131	0.91[ASN][1000 genomes]
rs10261775	0.92[ASN][1000 genomes]
rs10264663	0.92[ASN][1000 genomes]
rs10268486	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10268493	0.92[ASN][1000 genomes]
rs10269956	0.88[ASN][1000 genomes]
rs10274971	0.92[ASN][1000 genomes]
rs10275768	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10277618	0.92[ASN][1000 genomes]
rs10281346	0.88[ASN][1000 genomes]
rs12669722	0.89[EUR][1000 genomes]
rs12670897	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12671390	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12671392	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12671702	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12673567	0.90[ASN][1000 genomes]
rs12699082	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13221582	0.90[ASN][1000 genomes]
rs2079965	0.92[ASN][1000 genomes]
rs2191742	0.92[ASN][1000 genomes]
rs67650503	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6948185	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6952287	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6952586	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6978516	0.92[ASN][1000 genomes]
rs7779368	0.82[ASN][1000 genomes]
rs7802481	0.81[ASN][1000 genomes]
rs7802754	0.83[ASN][1000 genomes]
rs992124	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs992125	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1026896	chr7:71003462-71721516	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv516049	chr7:71026463-71280299	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1019799	chr7:71027947-71274161	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv538938	chr7:71027947-71274161	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1016182	chr7:71033825-71285800	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1034811	chr7:71033825-71288961	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1024288	chr7:71039619-71285800	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1027835	chr7:71055226-71281334	Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv538939	chr7:71055226-71281334	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1026364	chr7:71055226-71287960	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv538940	chr7:71055226-71287960	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv948337	chr7:71057204-71277518	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1027496	chr7:71162362-71575116	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv916220	chr7:71200006-71708048	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv1033922	chr7:71215193-71267227	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10276110	GTF2I	cis	parietal	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71215200-71218600	Weak transcription	Right Atrium	heart
2	chr7:71215400-71217400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:71216800-71217200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr7:71216800-71217200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:71216800-71217600	Enhancers	Primary hematopoietic stem cells	blood
6	chr7:71216800-71217600	Enhancers	Liver	Liver
7	chr7:71216800-71217800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr7:71217000-71217200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:71217000-71217200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:71217000-71217200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:71217000-71217200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:71217000-71217200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:71217000-71217200	Flanking Active TSS	Brain Cingulate Gyrus	brain
14	chr7:71217000-71217200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
15	chr7:71217000-71217200	Bivalent/Poised TSS	Brain Substantia Nigra	brain
16	chr7:71217000-71217200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
17	chr7:71217000-71217200	Enhancers	Gastric	stomach
18	chr7:71217000-71217200	Bivalent/Poised TSS	HSMM	muscle
19	chr7:71217000-71217200	Bivalent Enhancer	HSMMtube	muscle
20	chr7:71217000-71217200	Enhancers	NH-A	brain
21	chr7:71217000-71217400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
22	chr7:71217000-71217400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:71217000-71217400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:71217000-71217400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:71217000-71217400	Active TSS	Brain Angular Gyrus	brain
26	chr7:71217000-71217400	Active TSS	Brain Anterior Caudate	brain
27	chr7:71217000-71217400	Bivalent/Poised TSS	Fetal Brain Female	brain
28	chr7:71217000-71217400	Enhancers	Spleen	Spleen
29	chr7:71217000-71217600	Active TSS	H1 Cell Line	embryonic stem cell
30	chr7:71217000-71217600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:71217000-71217600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:71217000-71217600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr7:71217000-71217600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:71217000-71217600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
35	chr7:71217000-71217600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
36	chr7:71217000-71217600	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:71217000-71217600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr7:71217000-71217600	Bivalent Enhancer	Fetal Lung	lung
39	chr7:71217000-71217600	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr7:71217000-71217600	Enhancers	Placenta	Placenta
41	chr7:71217000-71217600	Bivalent Enhancer	Lung	lung
42	chr7:71217000-71217600	Bivalent Enhancer	Right Ventricle	heart
43	chr7:71217000-71217600	Bivalent Enhancer	Stomach Mucosa	stomach
44	chr7:71217000-71217800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
45	chr7:71217000-71217800	Active TSS	H9 Cell Line	embryonic stem cell
46	chr7:71217000-71217800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr7:71217000-71217800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
48	chr7:71217000-71217800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
49	chr7:71217000-71217800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
50	chr7:71217000-71217800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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