Variant report

Variant	rs72706848
Chromosome Location	chr14:96991191-96991192
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:96980357..96982346-chr14:96989639..96991890,2	MCF-7	breast:
2	chr14:96989613..96991388-chr14:96992755..96994484,2	K562	blood:
3	chr14:96968318..96970026-chr14:96990174..96992851,2	K562	blood:
4	chr14:96989700..96992252-chr14:96995292..96996938,2	MCF-7	breast:
5	chr14:96968706..96970870-chr14:96989041..96991198,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090060	Chromatin interaction
ENSG00000260806	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10145194	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1038439	0.82[ASN][1000 genomes]
rs11160343	0.81[ASN][1000 genomes]
rs12147170	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12147717	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12586332	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12586789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12589747	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2297243	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28405063	0.88[ASN][1000 genomes]
rs28600893	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28686887	0.86[ASN][1000 genomes]
rs3809425	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56088908	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56254662	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56960368	0.81[AFR][1000 genomes]
rs59323239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61368673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72706852	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72706853	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72706857	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72706860	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72706863	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72706864	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8003976	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042409	chr14:96832303-97115668	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv542178	chr14:96832303-97115668	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv3442210	chr14:96878392-97038700	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	esv1802671	chr14:96942352-97035680	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1052499	chr14:96974524-97034805	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	esv1793036	chr14:96983291-97023059	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr14:96970600-96991200	Weak transcription	Fetal Kidney	kidney
2	chr14:96975000-96992400	Weak transcription	K562	blood
3	chr14:96975600-96992200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:96976200-96992400	Weak transcription	NHEK	skin
5	chr14:96977000-96992600	Weak transcription	Fetal Brain Male	brain
6	chr14:96978000-97019400	Weak transcription	Aorta	Aorta
7	chr14:96979600-97000200	Weak transcription	Fetal Heart	heart
8	chr14:96979600-97022400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:96979800-97019200	Weak transcription	Small Intestine	intestine
10	chr14:96980800-97020600	Weak transcription	Stomach Mucosa	stomach
11	chr14:96981200-96998400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr14:96982000-96991600	Weak transcription	Brain Anterior Caudate	brain
13	chr14:96982000-97031400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:96983000-96992000	Weak transcription	Psoas Muscle	Psoas
15	chr14:96983800-96991400	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:96984400-96994200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:96984600-96992600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr14:96984600-97000200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr14:96984800-96991800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr14:96984800-97020800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr14:96984800-97039400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:96985800-97004800	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr14:96985800-97005200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:96986000-97003800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr14:96986000-97004800	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr14:96986200-96999000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:96986200-97004400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:96986200-97005600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr14:96986400-96993400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:96986400-96995200	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr14:96986400-97002800	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr14:96986400-97002800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr14:96986400-97002800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:96986400-97003000	Strong transcription	Duodenum Mucosa	Duodenum
35	chr14:96986400-97005400	Strong transcription	Placenta	Placenta
36	chr14:96986400-97007200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:96986600-96995200	Strong transcription	Fetal Thymus	thymus
38	chr14:96986600-97001200	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr14:96986600-97003800	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr14:96986600-97005200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:96986600-97006200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:96986800-96993000	Strong transcription	Fetal Intestine Small	intestine
43	chr14:96986800-96993600	Strong transcription	Fetal Muscle Leg	muscle
44	chr14:96986800-96994000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr14:96986800-96995000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:96986800-97003800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:96986800-97006800	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr14:96987000-96995200	Strong transcription	HepG2	liver
49	chr14:96987000-97002400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:96987000-97002600	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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