Variant report

Variant	rs10245516
Chromosome Location	chr7:71216974-71216975
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	chr7:71216886..71217682-chr7:71958728..71959690,3	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10232040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10235229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10240970	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10241300	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10245120	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10246379	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10254131	0.90[ASN][1000 genomes]
rs10261775	0.90[ASN][1000 genomes]
rs10264663	0.90[ASN][1000 genomes]
rs10268486	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10268493	0.90[ASN][1000 genomes]
rs10269956	0.86[ASN][1000 genomes]
rs10274971	0.90[ASN][1000 genomes]
rs10275768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10276110	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10277618	0.90[ASN][1000 genomes]
rs10281346	0.87[ASN][1000 genomes]
rs12669722	0.89[EUR][1000 genomes]
rs12670897	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12671390	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12671392	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12671702	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12673567	0.89[ASN][1000 genomes]
rs12699082	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13221582	0.88[ASN][1000 genomes]
rs2079965	0.90[ASN][1000 genomes]
rs2191742	0.90[ASN][1000 genomes]
rs67650503	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6948185	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6952287	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6952586	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6978516	0.90[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];0.90[ASN][1000 genomes]
rs992125	0.89[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

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71205400-71217000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:71215200-71218600	Weak transcription	Right Atrium	heart
3	chr7:71215400-71217400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:71216800-71217000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
5	chr7:71216800-71217000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
6	chr7:71216800-71217000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
7	chr7:71216800-71217000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr7:71216800-71217000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:71216800-71217200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr7:71216800-71217200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:71216800-71217600	Enhancers	Primary hematopoietic stem cells	blood
12	chr7:71216800-71217600	Enhancers	Liver	Liver
13	chr7:71216800-71217800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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