Variant report

Variant	rs1878489
Chromosome Location	chr7:71800665-71800666
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10235492	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10257621	0.92[AFR][1000 genomes]
rs1320108	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1914382	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2138762	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2138763	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2176400	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2944800	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2944818	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2968510	0.92[AFR][1000 genomes];1.00[AMR][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	nsv531372	chr7:71300090-71909517	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv491610	chr7:71422560-71803630	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv817506	chr7:71488542-71935721	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1034282	chr7:71531113-71876617	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv529620	chr7:71604785-71935721	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv492243	chr7:71648955-71935721	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1019700	chr7:71677836-71844973	Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv538943	chr7:71677836-71844973	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv607460	chr7:71713735-71817899	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv470299	chr7:71740458-71815170	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv464556	chr7:71740458-71817899	Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv464557	chr7:71744896-71935721	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv607461	chr7:71744896-71935721	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv1029656	chr7:71745055-71935721	Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv428170	chr7:71783434-71917539	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3439607	chr7:71800441-71802989	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71798400-71801200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:71798600-71801000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:71799600-71802800	Bivalent/Poised TSS	Fetal Brain Female	brain
4	chr7:71799800-71800800	Active TSS	Brain Hippocampus Middle	brain
5	chr7:71799800-71800800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
6	chr7:71799800-71801600	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr7:71799800-71801600	Bivalent/Poised TSS	Thymus	Thymus
8	chr7:71799800-71803000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr7:71799800-71803000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
10	chr7:71800000-71800800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
11	chr7:71800200-71802200	Active TSS	Fetal Thymus	thymus
12	chr7:71800200-71802400	Active TSS	Brain Anterior Caudate	brain
13	chr7:71800200-71802600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:71800400-71801000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr7:71800400-71801200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:71800400-71802600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:71800400-71802600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr7:71800400-71802600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:71800400-71802600	Active TSS	Brain Angular Gyrus	brain
20	chr7:71800400-71802800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:71800400-71803200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr7:71800600-71800800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr7:71800600-71800800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:71800600-71800800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
25	chr7:71800600-71800800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:71800600-71800800	Flanking Active TSS	Brain Substantia Nigra	brain
27	chr7:71800600-71800800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr7:71800600-71801000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
29	chr7:71800600-71801000	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr7:71800600-71802600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
31	chr7:71800600-71802600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr7:71800600-71802600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:71800600-71802600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:71800600-71802800	Active TSS	H9 Cell Line	embryonic stem cell
35	chr7:71800600-71802800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr7:71800600-71802800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr7:71800600-71803200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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