Variant report

Variant	rs12532608
Chromosome Location	chr7:110722248-110722249
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10233469	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10251869	0.98[ASN][1000 genomes]
rs10257075	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10261004	0.92[ASN][1000 genomes]
rs10262354	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10270683	0.85[AMR][1000 genomes]
rs10487301	0.91[AFR][1000 genomes]
rs10487302	0.92[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs10953676	0.92[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs10953677	0.92[AFR][1000 genomes]
rs10953678	0.92[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs10953679	0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1121497	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11773752	0.92[AFR][1000 genomes]
rs11974655	0.86[ASN][1000 genomes]
rs11976211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11978149	0.87[ASN][1000 genomes]
rs12668074	0.81[AFR][1000 genomes]
rs12669471	0.86[ASN][1000 genomes]
rs12671792	0.85[ASN][1000 genomes]
rs12674169	0.91[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12674347	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12674439	0.92[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12705753	0.92[AFR][1000 genomes]
rs12705754	0.80[ASN][1000 genomes]
rs12705756	0.92[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs17158333	0.80[AMR][1000 genomes]
rs2014938	0.82[AFR][1000 genomes]
rs2041659	0.92[AFR][1000 genomes]
rs2107146	0.92[AFR][1000 genomes]
rs2107147	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2110320	0.92[AFR][1000 genomes]
rs214893	0.87[ASN][1000 genomes]
rs214898	0.92[ASN][1000 genomes]
rs2894590	0.90[AFR][1000 genomes]
rs3823926	0.83[AMR][1000 genomes]
rs4727755	0.92[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs4730475	0.88[AFR][1000 genomes]
rs4730478	0.81[AMR][1000 genomes]
rs73418039	0.80[ASN][1000 genomes]
rs7455821	0.92[AFR][1000 genomes]
rs757219	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7800862	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7804649	0.92[AFR][1000 genomes]
rs995147	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110715200-110722400	Weak transcription	Brain Hippocampus Middle	brain
2	chr7:110720000-110723800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr7:110720200-110723600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr7:110720200-110723800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:110720600-110722400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:110720800-110722400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr7:110720800-110722600	Enhancers	Dnd41	blood
8	chr7:110720800-110724000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:110720800-110724600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr7:110720800-110725400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr7:110720800-110725600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:110720800-110726800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr7:110721000-110725600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr7:110721400-110722600	Enhancers	Small Intestine	intestine
15	chr7:110721400-110722800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:110721400-110722800	Enhancers	Fetal Thymus	thymus
17	chr7:110721400-110722800	Enhancers	Thymus	Thymus
18	chr7:110721400-110723600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr7:110721400-110723800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:110721400-110724600	Enhancers	Primary T cells fromperipheralblood	blood
21	chr7:110721600-110723600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:110721800-110722600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:110721800-110722800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:110721800-110723000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:110721800-110723200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:110721800-110723200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr7:110721800-110723800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:110721800-110724000	Enhancers	GM12878-XiMat	blood
29	chr7:110721800-110724200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr7:110721800-110724200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr7:110722000-110722400	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr7:110722000-110722600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr7:110722000-110722600	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr7:110722000-110722800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr7:110722000-110722800	Enhancers	H9 Cell Line	embryonic stem cell
36	chr7:110722000-110722800	Enhancers	HSMMtube	muscle
37	chr7:110722000-110722800	Enhancers	NHLF	lung
38	chr7:110722000-110723000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr7:110722000-110723000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:110722000-110723000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr7:110722000-110723200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:110722000-110723400	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr7:110722200-110722400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:110722200-110722600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr7:110722200-110722600	Active TSS	Aorta	Aorta
46	chr7:110722200-110722600	Active TSS	Brain Angular Gyrus	brain
47	chr7:110722200-110722600	Flanking Active TSS	NH-A	brain
48	chr7:110722200-110722800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr7:110722200-110722800	Enhancers	Brain Substantia Nigra	brain
50	chr7:110722200-110722800	Enhancers	Duodenum Mucosa	Duodenum

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