Variant report

Variant	rs73086649
Chromosome Location	chr3:196012624-196012625
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:196012377..196016502-chr3:196041586..196047553,11	K562	blood:
2	chr3:195965458..195967733-chr3:196012588..196015404,2	MCF-7	breast:
3	chr3:196010976..196013330-chr3:196068543..196070894,2	MCF-7	breast:
4	chr3:196012352..196016755-chr3:196062622..196069148,9	K562	blood:
5	chr3:196012576..196016636-chr3:196061383..196069148,11	K562	blood:

Variant related genes	Relation type
ENSG00000235897	Chromatin interaction
ENSG00000272741	Chromatin interaction
ENSG00000145107	Chromatin interaction
ENSG00000161217	Chromatin interaction
ENSG00000213123	Chromatin interaction
ENSG00000212146	Chromatin interaction
ENSG00000273331	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12053980	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12490786	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12632013	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280525	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35270876	0.86[ASN][1000 genomes]
rs56107869	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56152446	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs58820816	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6771755	1.00[ASN][1000 genomes]
rs73084688	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73084691	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73084695	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9714228	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv878179	chr3:195929268-196019680	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
14	nsv1014563	chr3:195934010-196085951	Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
15	nsv878180	chr3:195946535-196066569	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
16	nsv878181	chr3:195946535-196072442	Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
17	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
18	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
19	nsv878182	chr3:195974181-196228360	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196000600-196012800	Weak transcription	Ovary	ovary
2	chr3:196000600-196013800	Weak transcription	Aorta	Aorta
3	chr3:196001000-196013800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:196001200-196013600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:196001400-196013000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:196001400-196013200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:196001600-196013000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:196005000-196013000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr3:196006000-196012800	Enhancers	Fetal Intestine Small	intestine
10	chr3:196006000-196013000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr3:196006400-196013000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:196006600-196013600	Weak transcription	Lung	lung
13	chr3:196006600-196013800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:196007200-196013000	Weak transcription	Gastric	stomach
15	chr3:196007200-196013800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:196007400-196013800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:196008600-196012800	Weak transcription	Stomach Mucosa	stomach
18	chr3:196008600-196013200	Weak transcription	A549	lung
19	chr3:196009200-196013000	Weak transcription	Fetal Thymus	thymus
20	chr3:196010000-196013800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr3:196010400-196012800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:196010400-196012800	Enhancers	HepG2	liver
23	chr3:196010400-196013800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr3:196010400-196013800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr3:196010600-196012800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:196010600-196013400	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr3:196010800-196013000	Enhancers	Liver	Liver
28	chr3:196011000-196012800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr3:196011200-196012800	Enhancers	Brain Cingulate Gyrus	brain
30	chr3:196011200-196012800	Enhancers	NHEK	skin
31	chr3:196011200-196013200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr3:196011200-196013400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr3:196011400-196012800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:196011400-196012800	Enhancers	Fetal Intestine Large	intestine
35	chr3:196011400-196013000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr3:196011400-196013000	Enhancers	Brain Angular Gyrus	brain
37	chr3:196011400-196013000	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr3:196011400-196013200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:196011400-196013200	Enhancers	Fetal Muscle Leg	muscle
40	chr3:196011400-196013800	Enhancers	Placenta	Placenta
41	chr3:196011600-196012800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:196011600-196012800	Weak transcription	Brain Germinal Matrix	brain
43	chr3:196011600-196012800	Enhancers	Stomach Smooth Muscle	stomach
44	chr3:196011600-196013200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr3:196011600-196013800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr3:196011600-196013800	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr3:196011600-196013800	Enhancers	Thymus	Thymus
48	chr3:196011800-196013200	Enhancers	Dnd41	blood
49	chr3:196011800-196013400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr3:196012000-196012800	Enhancers	Left Ventricle	heart

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