Variant report

Variant	rs71317943
Chromosome Location	chr3:194823711-194823712
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194819792..194821341-chr3:194822667..194825167,2	MCF-7	breast:
2	chr3:194814998..194816504-chr3:194822163..194824856,2	MCF-7	breast:
3	chr3:194822394..194825195-chr3:194825824..194828590,3	K562	blood:
4	chr3:194783220..194785678-chr3:194823694..194826162,2	K562	blood:
5	chr3:194813898..194816593-chr3:194822783..194824475,2	K562	blood:

Variant related genes	Relation type
ENSG00000233303	Chromatin interaction
ENSG00000173950	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11721200	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4677656	0.81[ASN][1000 genomes]
rs4677807	0.80[ASN][1000 genomes]
rs6767234	0.80[ASN][1000 genomes]
rs73206633	0.81[ASN][1000 genomes]
rs7618901	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	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
8	nsv1012592	chr3:194814446-194931562	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv536875	chr3:194814446-194931562	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
10	nsv1001492	chr3:194814990-194935397	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
11	nsv461126	chr3:194817484-194961888	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
12	nsv592981	chr3:194817484-194961888	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
13	esv3344968	chr3:194821488-194824036	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv878137	chr3:194822098-194900432	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194802000-194826800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:194806800-194826400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:194808600-194827000	Weak transcription	Fetal Brain Female	brain
4	chr3:194808800-194824800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:194814600-194827800	Enhancers	Fetal Heart	heart
6	chr3:194815200-194826800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:194815400-194827000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:194815800-194824400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:194815800-194827000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:194815800-194830200	Weak transcription	Primary T cells from cord blood	blood
11	chr3:194816000-194826800	Weak transcription	Fetal Stomach	stomach
12	chr3:194816000-194830000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:194816200-194824000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:194816200-194825000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr3:194816400-194825000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:194816400-194827000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:194816600-194826800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr3:194816800-194824200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr3:194817200-194831200	Weak transcription	Gastric	stomach
20	chr3:194817400-194824400	Weak transcription	HepG2	liver
21	chr3:194817600-194825000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr3:194818200-194828800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr3:194818600-194824400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr3:194818800-194826200	Weak transcription	Thymus	Thymus
25	chr3:194819000-194826800	Weak transcription	Dnd41	blood
26	chr3:194820600-194824000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:194820800-194827600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:194821200-194824000	Enhancers	NHEK	skin
29	chr3:194821200-194825000	Enhancers	NHDF-Ad	bronchial
30	chr3:194821200-194826400	Weak transcription	Fetal Muscle Leg	muscle
31	chr3:194821200-194827800	Enhancers	HUVEC	blood vessel
32	chr3:194821400-194824000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:194821400-194825200	Enhancers	Osteobl	bone
34	chr3:194821400-194825400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:194821400-194825400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:194821600-194823800	Weak transcription	Spleen	Spleen
37	chr3:194821600-194823800	Enhancers	NHLF	lung
38	chr3:194821600-194825200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:194822000-194823800	Weak transcription	Lung	lung
40	chr3:194822000-194827000	Weak transcription	Pancreas	Pancrea
41	chr3:194822000-194827000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr3:194822000-194846600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr3:194822200-194827000	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr3:194822400-194824000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:194822400-194824400	Weak transcription	Liver	Liver
46	chr3:194822400-194825400	Enhancers	Primary B cells from cord blood	blood
47	chr3:194822400-194827000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:194822600-194824000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:194822600-194824200	Enhancers	Primary hematopoietic stem cells	blood
50	chr3:194822600-194824600	Weak transcription	Fetal Thymus	thymus

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