Variant report

Variant	rs71323703
Chromosome Location	chr3:195890527-195890528
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195890392..195892758-chr3:195896649..195898282,2	K562	blood:
2	chr3:195806967..195809789-chr3:195888733..195890950,3	MCF-7	breast:
3	chr3:195890135..195892758-chr3:195896649..195899546,2	K562	blood:
4	chr3:195807555..195809737-chr3:195889457..195892454,2	K562	blood:
5	chr3:195823642..195825667-chr3:195890214..195892220,2	K562	blood:
6	chr3:195806752..195810300-chr3:195885348..195891708,10	K562	blood:
7	chr3:195868179..195870899-chr3:195889538..195893919,5	K562	blood:
8	chr3:195867258..195871811-chr3:195887693..195891038,5	K562	blood:
9	chr3:195854415..195856195-chr3:195888995..195891354,2	K562	blood:
10	chr3:195868011..195869690-chr3:195889023..195890635,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224652	Chromatin interaction
ENSG00000072274	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13063133	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13071562	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13077202	1.00[EUR][1000 genomes]
rs13079291	1.00[EUR][1000 genomes]
rs13079625	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13085033	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13094686	0.90[EUR][1000 genomes]
rs34061373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34432042	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34986494	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35262620	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35812615	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59958837	0.81[AFR][1000 genomes]
rs6583296	0.85[ASN][1000 genomes]
rs6764668	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6798933	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6808338	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6809051	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71321902	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71617337	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7622378	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	esv2757913	chr3:195379484-196071593	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv532213	chr3:195643944-196063636	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv878171	chr3:195677895-195959924	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv1008512	chr3:195709662-195974936	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv1002584	chr3:195734933-195910772	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription 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 miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv432543	chr3:195746690-196015690	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
9	nsv532214	chr3:195762648-195916068	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
10	nsv1009105	chr3:195769609-195984388	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
11	nsv461130	chr3:195776240-195907653	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
12	nsv593069	chr3:195776240-195907653	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
13	nsv1005558	chr3:195789462-195919077	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
14	nsv536890	chr3:195789462-195919077	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
15	nsv998042	chr3:195840858-195934070	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	nsv1009811	chr3:195851796-196138071	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
17	nsv593070	chr3:195854279-195924203	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv878174	chr3:195858887-195949541	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv461131	chr3:195858887-196072442	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
20	nsv593071	chr3:195858887-196072442	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
21	nsv1004194	chr3:195864466-195919077	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
22	nsv536891	chr3:195864466-195919077	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
23	nsv1009178	chr3:195864466-196081670	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
24	nsv536892	chr3:195864466-196081670	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS 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	51 gene(s)	inside rSNPs	diseases
25	nsv1003550	chr3:195885340-196159824	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
26	nsv536893	chr3:195885340-196159824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
27	esv3394908	chr3:195890255-195893553	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	esv3415477	chr3:195890355-195893653	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195874200-195892000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:195883400-195904400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:195887200-195890600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:195887200-195890800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:195887200-195891600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:195887200-195893000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr3:195887400-195890600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr3:195887400-195890800	Weak transcription	Esophagus	oesophagus
9	chr3:195887400-195891200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr3:195887400-195891400	Weak transcription	Fetal Lung	lung
11	chr3:195887400-195891600	Weak transcription	Gastric	stomach
12	chr3:195887600-195890600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:195887600-195891400	Weak transcription	Fetal Kidney	kidney
14	chr3:195887600-195892800	Weak transcription	Brain Anterior Caudate	brain
15	chr3:195887600-195905600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:195887800-195890600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:195887800-195896800	Weak transcription	Primary B cells from cord blood	blood
18	chr3:195888000-195891200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr3:195888600-195893200	Enhancers	Stomach Mucosa	stomach
20	chr3:195889400-195890800	Enhancers	Placenta	Placenta
21	chr3:195889600-195891000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr3:195889600-195891800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr3:195889600-195891800	Enhancers	Fetal Intestine Large	intestine
24	chr3:195889600-195892600	Enhancers	Pancreas	Pancrea
25	chr3:195890000-195895800	Weak transcription	Dnd41	blood
26	chr3:195890200-195890600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr3:195890200-195891000	Enhancers	Fetal Muscle Leg	muscle
28	chr3:195890200-195891000	Enhancers	Fetal Thymus	thymus
29	chr3:195890200-195891200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr3:195890200-195891400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:195890200-195891600	Enhancers	Colonic Mucosa	Colon
32	chr3:195890200-195892000	Enhancers	Fetal Intestine Small	intestine
33	chr3:195890400-195890600	Enhancers	HSMM	muscle
34	chr3:195890400-195890800	Enhancers	Liver	Liver
35	chr3:195890400-195891000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:195890400-195891000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:195890400-195891000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr3:195890400-195891000	Enhancers	Small Intestine	intestine
39	chr3:195890400-195891000	Enhancers	HSMMtube	muscle
40	chr3:195890400-195891200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:195890400-195891200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr3:195890400-195891200	Enhancers	Fetal Heart	heart
43	chr3:195890400-195891200	Enhancers	Fetal Muscle Trunk	muscle
44	chr3:195890400-195891400	Enhancers	Ovary	ovary
45	chr3:195890400-195891400	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr3:195890400-195891600	Enhancers	Adipose Nuclei	Adipose
47	chr3:195890400-195891600	Flanking Active TSS	Hela-S3	cervix
48	chr3:195890400-195891600	Flanking Bivalent TSS/Enh	HepG2	liver
49	chr3:195890400-195891800	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr3:195890400-195892000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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