Variant report

Variant	rs12671633
Chromosome Location	chr7:128144374-128144375
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10954186	0.91[EUR][1000 genomes]
rs11973151	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11978885	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12669878	0.80[EUR][1000 genomes]
rs12670251	0.90[EUR][1000 genomes]
rs12671449	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12673746	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34648097	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4448212	0.81[EUR][1000 genomes]
rs56174902	0.86[ASN][1000 genomes]
rs56329212	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61479217	0.81[EUR][1000 genomes]
rs62481136	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62481142	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62481155	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62483264	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62483275	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62483276	0.80[EUR][1000 genomes]
rs62483280	0.90[EUR][1000 genomes]
rs62483299	0.80[EUR][1000 genomes]
rs62483350	0.83[EUR][1000 genomes]
rs6946411	0.81[EUR][1000 genomes]
rs7799914	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7809300	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	esv1794896	chr7:128142170-128170380	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12671633	RP11-274B21.1	cis	Adipose Subcutaneous	GTEx
rs12671633	RP11-274B21.4	cis	Whole Blood	GTEx
rs12671633	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx
rs12671633	RP11-274B21.4	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128117800-128162800	Weak transcription	Pancreas	Pancrea
2	chr7:128117800-128163400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:128118000-128146400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr7:128118000-128146400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr7:128118200-128146400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:128118400-128147000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:128121400-128147000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:128122000-128155400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:128122400-128156800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:128132000-128145000	Strong transcription	Fetal Stomach	stomach
11	chr7:128133600-128144600	Strong transcription	Fetal Thymus	thymus
12	chr7:128138000-128147200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:128138000-128147800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:128138200-128146400	Weak transcription	Brain Substantia Nigra	brain
15	chr7:128138200-128147600	Weak transcription	Small Intestine	intestine
16	chr7:128138400-128145200	Weak transcription	Right Ventricle	heart
17	chr7:128140200-128146400	Weak transcription	Primary B cells from cord blood	blood
18	chr7:128141200-128145400	Weak transcription	Osteobl	bone
19	chr7:128141400-128144800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:128141400-128144800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:128141600-128145000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:128141600-128145600	Weak transcription	GM12878-XiMat	blood
23	chr7:128141600-128146400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr7:128141600-128150600	Weak transcription	Fetal Brain Female	brain
25	chr7:128141800-128152000	Weak transcription	K562	blood
26	chr7:128142000-128145000	Weak transcription	NHEK	skin
27	chr7:128142000-128147000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:128142000-128147000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:128142000-128147200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr7:128142000-128147200	Weak transcription	Brain Anterior Caudate	brain
31	chr7:128142000-128150200	Weak transcription	Primary T cells from cord blood	blood
32	chr7:128142000-128151400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr7:128142200-128144400	Weak transcription	Aorta	Aorta
34	chr7:128142200-128145400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:128142200-128145800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr7:128142200-128146000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:128142200-128146400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr7:128142200-128146600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:128142200-128146600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:128142200-128146600	Weak transcription	Fetal Muscle Leg	muscle
41	chr7:128142200-128147400	Weak transcription	Liver	Liver
42	chr7:128142200-128147600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr7:128142200-128148200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr7:128142200-128148400	Weak transcription	Spleen	Spleen
45	chr7:128142200-128149400	Weak transcription	Thymus	Thymus
46	chr7:128142200-128152600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:128142200-128163200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr7:128142400-128147000	Weak transcription	Brain Hippocampus Middle	brain
49	chr7:128142400-128147800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr7:128142400-128152200	Weak transcription	Duodenum Mucosa	Duodenum

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