Variant report

Variant	rs17158330
Chromosome Location	chr7:110742454-110742455
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:110734986..110737421-chr7:110741175..110743179,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1013941	0.87[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1018931	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10215072	0.88[YRI][hapmap]
rs10216185	0.93[AFR][1000 genomes]
rs10216191	0.90[LWK][hapmap];1.00[MEX][hapmap]
rs10224054	1.00[AMR][1000 genomes]
rs10227865	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs10228570	1.00[AMR][1000 genomes]
rs10230877	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10232293	1.00[YRI][hapmap]
rs10236666	1.00[ASW][hapmap]
rs10242551	1.00[AMR][1000 genomes]
rs10243966	1.00[AMR][1000 genomes]
rs10251428	0.81[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[AMR][1000 genomes]
rs10256013	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs10267396	0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs10268393	0.87[YRI][hapmap]
rs10277196	1.00[MEX][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10278254	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10487303	1.00[AMR][1000 genomes]
rs11981225	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs17158187	0.88[YRI][hapmap]
rs17158443	1.00[ASW][hapmap];0.87[LWK][hapmap]
rs28477778	0.84[AFR][1000 genomes]
rs28657599	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28690804	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28711744	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28753698	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61554899	0.81[AFR][1000 genomes]
rs73418018	1.00[AMR][1000 genomes]
rs73418075	1.00[AMR][1000 genomes]
rs73420006	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73420008	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73420054	1.00[AMR][1000 genomes]
rs7802954	1.00[MEX][hapmap]
rs9987043	0.87[LWK][hapmap]

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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110733800-110747200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:110734800-110761800	Weak transcription	Left Ventricle	heart
3	chr7:110734800-110762800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr7:110735000-110747400	Weak transcription	Adipose Nuclei	Adipose
5	chr7:110736000-110744600	Weak transcription	Brain Germinal Matrix	brain
6	chr7:110736000-110747600	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:110736800-110744800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:110737400-110744400	Weak transcription	Fetal Brain Male	brain
9	chr7:110737400-110751600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr7:110737400-110767000	Weak transcription	Brain Angular Gyrus	brain
11	chr7:110738200-110743600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:110738400-110743800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:110738800-110743600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr7:110738800-110744000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:110738800-110744000	Weak transcription	Fetal Lung	lung
16	chr7:110738800-110745200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:110738800-110745600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr7:110738800-110748000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:110739000-110744800	Weak transcription	Brain Substantia Nigra	brain
20	chr7:110739000-110744800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:110739000-110747400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr7:110739200-110744000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:110739200-110744000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:110739200-110744800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr7:110739200-110763000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr7:110739400-110743800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr7:110739400-110744000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr7:110739400-110746800	Weak transcription	Fetal Brain Female	brain
29	chr7:110739600-110744200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:110739600-110745200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:110739800-110743400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr7:110740000-110742800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:110740000-110746600	Genic enhancers	Primary T cells from cord blood	blood
34	chr7:110740200-110743600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr7:110740200-110748200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:110741600-110744800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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