Variant report

Variant	rs6975872
Chromosome Location	chr7:110651245-110651246
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	chr7:110650313..110653197-chr7:110655896..110658694,2	K562	blood:
2	chr7:110645729..110647636-chr7:110649973..110652991,3	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10229697	1.00[EUR][1000 genomes]
rs10235732	1.00[EUR][1000 genomes]
rs10235831	1.00[EUR][1000 genomes]
rs10240065	1.00[EUR][1000 genomes]
rs10241294	1.00[EUR][1000 genomes]
rs10245552	1.00[EUR][1000 genomes]
rs10248851	1.00[EUR][1000 genomes]
rs10256612	1.00[EUR][1000 genomes]
rs10259851	1.00[EUR][1000 genomes]
rs10261307	1.00[EUR][1000 genomes]
rs10266782	1.00[EUR][1000 genomes]
rs10280198	1.00[EUR][1000 genomes]
rs10282715	1.00[EUR][1000 genomes]
rs10487295	1.00[EUR][1000 genomes]
rs11505728	1.00[EUR][1000 genomes]
rs11505729	1.00[EUR][1000 genomes]
rs11505730	1.00[EUR][1000 genomes]
rs11505731	1.00[EUR][1000 genomes]
rs11505732	1.00[EUR][1000 genomes]
rs11505733	1.00[EUR][1000 genomes]
rs11505901	1.00[EUR][1000 genomes]
rs16873234	1.00[EUR][1000 genomes]
rs17158038	1.00[EUR][1000 genomes]
rs17158040	1.00[EUR][1000 genomes]
rs17158074	1.00[EUR][1000 genomes]
rs17158107	1.00[EUR][1000 genomes]
rs17158283	1.00[EUR][1000 genomes]
rs1860807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2214972	1.00[EUR][1000 genomes]
rs28435168	1.00[EUR][1000 genomes]
rs28441083	1.00[EUR][1000 genomes]
rs28545077	1.00[EUR][1000 genomes]
rs28607108	1.00[EUR][1000 genomes]
rs28687586	1.00[EUR][1000 genomes]
rs28709655	1.00[EUR][1000 genomes]
rs57796825	1.00[EUR][1000 genomes]
rs6466364	1.00[EUR][1000 genomes]
rs73419241	1.00[EUR][1000 genomes]
rs73419250	1.00[EUR][1000 genomes]
rs73423031	1.00[EUR][1000 genomes]
rs73423032	1.00[EUR][1000 genomes]
rs73423072	1.00[EUR][1000 genomes]
rs73423074	1.00[EUR][1000 genomes]
rs73425039	1.00[EUR][1000 genomes]
rs73425043	1.00[EUR][1000 genomes]
rs73425066	1.00[EUR][1000 genomes]
rs73435151	1.00[EUR][1000 genomes]
rs7776859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7779848	1.00[EUR][1000 genomes]
rs7780566	1.00[EUR][1000 genomes]
rs7795999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7801502	1.00[EUR][1000 genomes]
rs7805064	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7809830	1.00[EUR][1000 genomes]
rs7810646	1.00[EUR][1000 genomes]
rs7810802	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023596	chr7:109984459-110708071	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539061	chr7:109984459-110708071	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv531434	chr7:110310931-110839892	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3506497	chr7:110484691-111091738	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3506498	chr7:110484750-111091689	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv888973	chr7:110509579-110699652	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv888974	chr7:110516659-110660055	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv2758129	chr7:110523298-110787849	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv2759554	chr7:110523298-110787849	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	5 gene(s)	inside rSNPs	diseases
10	nsv1031546	chr7:110549137-110978256	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv817555	chr7:110564801-110990927	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1033286	chr7:110588021-110990928	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv539063	chr7:110588021-110990928	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv931978	chr7:110607590-111092490	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv1025987	chr7:110609568-111258501	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv888975	chr7:110613685-110677656	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv2830178	chr7:110645431-110778571	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110636600-110657600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:110646200-110660600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:110646600-110651600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:110647000-110651800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:110648400-110652600	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr7:110648400-110653000	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr7:110648400-110663800	Weak transcription	Aorta	Aorta
8	chr7:110648800-110652800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr7:110648800-110653000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:110648800-110653000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr7:110649200-110651800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:110649200-110652800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:110649400-110653200	Enhancers	Fetal Thymus	thymus
14	chr7:110649800-110651600	Enhancers	Fetal Intestine Large	intestine
15	chr7:110649800-110659000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:110650000-110652800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr7:110650000-110659000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:110650200-110652600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr7:110650200-110652800	Enhancers	Thymus	Thymus
20	chr7:110650200-110652800	Weak transcription	Dnd41	blood
21	chr7:110650200-110653000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:110650400-110652800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr7:110650600-110654400	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr7:110650800-110651600	Enhancers	Fetal Intestine Small	intestine
25	chr7:110650800-110651800	Enhancers	Primary T cells fromperipheralblood	blood
26	chr7:110651000-110653200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:110651200-110651600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr7:110651200-110651600	Weak transcription	A549	lung
29	chr7:110651200-110652600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr7:110651200-110653400	Weak transcription	Right Atrium	heart

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