Variant report

Variant	rs214889
Chromosome Location	chr7:110737974-110737975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1155408	1.00[AMR][1000 genomes]
rs12538096	1.00[AMR][1000 genomes]
rs214843	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs214895	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs37740	1.00[AMR][1000 genomes]
rs39727	1.00[AMR][1000 genomes]
rs799637	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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv1024477	chr7:110660006-110944477	Flanking Active TSS Active TSS Enhancers Weak transcription 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	3 gene(s)	inside rSNPs	diseases
14	nsv608154	chr7:110688993-110945501	Enhancers Weak transcription 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	3 gene(s)	inside rSNPs	diseases
15	nsv608155	chr7:110722482-111351512	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv515693	chr7:110728181-110743602	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110732400-110738600	Weak transcription	Psoas Muscle	Psoas
2	chr7:110732600-110738600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:110732800-110738200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:110732800-110738600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:110733800-110747200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:110734200-110738000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr7:110734800-110761800	Weak transcription	Left Ventricle	heart
8	chr7:110734800-110762800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr7:110735000-110738000	Weak transcription	Brain Substantia Nigra	brain
10	chr7:110735000-110738200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr7:110735000-110738200	Weak transcription	Fetal Lung	lung
12	chr7:110735000-110738400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:110735000-110738600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:110735000-110739000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:110735000-110747400	Weak transcription	Adipose Nuclei	Adipose
16	chr7:110735600-110738800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr7:110735800-110738200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr7:110736000-110738600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:110736000-110739000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr7:110736000-110744600	Weak transcription	Brain Germinal Matrix	brain
21	chr7:110736000-110747600	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:110736400-110738400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:110736400-110738400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:110736400-110738400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr7:110736400-110738600	Weak transcription	Brain Anterior Caudate	brain
26	chr7:110736400-110739400	Active TSS	Fetal Brain Female	brain
27	chr7:110736800-110738200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr7:110736800-110744800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:110737000-110738800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr7:110737200-110738200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:110737200-110738200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:110737200-110739200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr7:110737400-110738200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr7:110737400-110739200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:110737400-110744400	Weak transcription	Fetal Brain Male	brain
36	chr7:110737400-110751600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr7:110737400-110767000	Weak transcription	Brain Angular Gyrus	brain
38	chr7:110737600-110738400	Enhancers	A549	lung
39	chr7:110737800-110738000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr7:110737800-110738200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr7:110737800-110738400	Enhancers	H1 Cell Line	embryonic stem cell
42	chr7:110737800-110739000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:110737800-110739200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr7:110737800-110739600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr7:110737800-110739600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr7:110737800-110739600	Flanking Active TSS	Primary T cells from cord blood	blood

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