Variant report

Variant	rs60712049
Chromosome Location	chr3:194796351-194796352
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194787100..194789938-chr3:194793885..194796418,2	K562	blood:
2	chr3:194784048..194788600-chr3:194793923..194797943,5	K562	blood:
3	chr3:194784048..194786675-chr3:194793923..194796465,3	K562	blood:
4	chr3:194794586..194797203-chr3:194801672..194803594,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10933694	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10933696	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12107513	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3796158	0.98[ASN][1000 genomes]
rs73206605	0.95[ASN][1000 genomes]
rs73206616	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73206620	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7631827	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer 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 miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv997779	chr3:194687093-194885936	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv536874	chr3:194687093-194885936	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
6	esv1813153	chr3:194754532-194851746	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878136	chr3:194779412-194845226	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194779000-194808000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:194780200-194800000	Weak transcription	Right Atrium	heart
3	chr3:194781000-194808000	Weak transcription	Colonic Mucosa	Colon
4	chr3:194783600-194801400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:194784000-194797800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:194784200-194797400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:194785200-194796600	Weak transcription	NHLF	lung
8	chr3:194785400-194799200	Weak transcription	Pancreas	Pancrea
9	chr3:194785600-194801400	Weak transcription	Fetal Lung	lung
10	chr3:194785600-194801600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr3:194785600-194802000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr3:194786000-194796600	Weak transcription	Primary B cells from cord blood	blood
13	chr3:194786000-194800400	Weak transcription	GM12878-XiMat	blood
14	chr3:194787200-194800000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:194787600-194801000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr3:194789000-194796800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:194789800-194800000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr3:194790400-194796400	Weak transcription	Ovary	ovary
19	chr3:194790400-194808000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr3:194790600-194796400	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr3:194790600-194796600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:194790600-194796600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr3:194790600-194797200	Weak transcription	Placenta	Placenta
24	chr3:194790600-194797400	Weak transcription	Brain Anterior Caudate	brain
25	chr3:194790600-194797400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr3:194790600-194798000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:194790600-194798200	Weak transcription	Aorta	Aorta
28	chr3:194790600-194800000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr3:194790600-194800200	Weak transcription	Adipose Nuclei	Adipose
30	chr3:194790600-194800600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr3:194790600-194801000	Weak transcription	Brain Hippocampus Middle	brain
32	chr3:194790600-194801600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr3:194790600-194801800	Weak transcription	Colon Smooth Muscle	Colon
34	chr3:194790600-194802000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr3:194790600-194802400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr3:194790600-194807800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:194790800-194796400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr3:194790800-194798600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:194790800-194799400	Weak transcription	Brain Germinal Matrix	brain
40	chr3:194790800-194799800	Weak transcription	Lung	lung
41	chr3:194790800-194800000	Weak transcription	HUVEC	blood vessel
42	chr3:194790800-194800400	Weak transcription	Fetal Brain Female	brain
43	chr3:194790800-194800600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:194790800-194800800	Weak transcription	Esophagus	oesophagus
45	chr3:194790800-194803600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:194790800-194807400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr3:194790800-194807800	Weak transcription	HepG2	liver
48	chr3:194791000-194800400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:194791000-194801400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr3:194791000-194821800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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