Variant report

Variant	rs2866687
Chromosome Location	chr7:70146226-70146227
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11763510	0.92[EUR][1000 genomes]
rs11971176	0.97[EUR][1000 genomes]
rs13236398	0.96[EUR][1000 genomes]
rs17502134	0.91[EUR][1000 genomes]
rs35024800	0.94[EUR][1000 genomes]
rs36018096	0.96[EUR][1000 genomes]
rs73435047	0.81[ASN][1000 genomes]
rs7793102	0.97[EUR][1000 genomes]
rs7794726	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	nsv532784	chr7:69969631-70204548	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats 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
5	nsv1025522	chr7:69971452-70173513	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription 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
6	nsv1032378	chr7:70010392-70190353	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv538929	chr7:70010392-70190353	Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1024498	chr7:70016323-70190353	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv538930	chr7:70016323-70190353	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1025164	chr7:70061655-70469358	Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv538931	chr7:70061655-70469358	Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1029757	chr7:70061656-70190100	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv538932	chr7:70061656-70190100	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1030496	chr7:70067475-70221743	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1017876	chr7:70073764-70434599	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats 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 miRNA	6 gene(s)	inside rSNPs	diseases
17	nsv1031761	chr7:70125949-70182744	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv538933	chr7:70125949-70182744	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70101000-70158200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:70123800-70146800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:70133800-70158000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:70134400-70147600	Weak transcription	Esophagus	oesophagus
5	chr7:70139200-70157800	Weak transcription	Right Atrium	heart
6	chr7:70141600-70152800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:70143000-70146800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr7:70143000-70148000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:70143600-70146800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:70144000-70149400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:70144200-70146600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:70144400-70146800	Weak transcription	Fetal Thymus	thymus
13	chr7:70144600-70146600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:70144600-70146800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:70145000-70146400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:70145000-70146600	Weak transcription	Fetal Stomach	stomach
17	chr7:70145000-70146600	Enhancers	GM12878-XiMat	blood
18	chr7:70145000-70147400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:70145200-70146800	Weak transcription	Dnd41	blood
20	chr7:70145400-70146600	Enhancers	Liver	Liver
21	chr7:70145400-70146800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr7:70145400-70147000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr7:70145400-70148000	Enhancers	Fetal Brain Male	brain
24	chr7:70145400-70149000	Enhancers	Fetal Brain Female	brain
25	chr7:70145600-70146600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
26	chr7:70145600-70146600	Weak transcription	Primary T cells from cord blood	blood
27	chr7:70145600-70146800	Weak transcription	Fetal Lung	lung
28	chr7:70145600-70147400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:70145600-70147400	Active TSS	NHDF-Ad	bronchial
30	chr7:70146000-70146400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
31	chr7:70146000-70146400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
32	chr7:70146000-70146400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
33	chr7:70146000-70146400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
34	chr7:70146000-70146400	Enhancers	Ovary	ovary
35	chr7:70146000-70146400	Enhancers	Spleen	Spleen
36	chr7:70146000-70147000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:70146200-70146400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:70146200-70146400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:70146200-70146600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
40	chr7:70146200-70146800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:70146200-70146800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
42	chr7:70146200-70146800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
43	chr7:70146200-70146800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr7:70146200-70146800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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