Variant report

Variant	rs73102171
Chromosome Location	chr12:48049860-48049861
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48049652..48051782-chr12:48054886..48057074,2	K562	blood:
2	chr12:48040105..48042458-chr12:48048872..48051635,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs12422974	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12423045	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12426347	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12426849	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2020962	0.80[EUR][1000 genomes]
rs35044089	0.86[EUR][1000 genomes]
rs57848393	0.84[EUR][1000 genomes]
rs67201012	0.84[EUR][1000 genomes]
rs67408202	0.84[EUR][1000 genomes]
rs7303895	0.96[EUR][1000 genomes]
rs7304743	0.96[EUR][1000 genomes]
rs73102120	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102125	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102127	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102140	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102148	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102151	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102168	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73102195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73102201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73104103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73104104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73104111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73104115	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73104116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73104138	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73104143	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73104144	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73104148	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73104152	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73104155	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73104161	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73104163	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73104177	0.84[EUR][1000 genomes]
rs73104184	0.84[EUR][1000 genomes]
rs73104188	0.84[EUR][1000 genomes]
rs73111258	0.86[EUR][1000 genomes]
rs73113117	0.86[EUR][1000 genomes]
rs73113139	0.86[EUR][1000 genomes]
rs73113143	0.86[EUR][1000 genomes]
rs73113159	0.93[EUR][1000 genomes]
rs73113161	0.93[EUR][1000 genomes]
rs7954764	0.88[AMR][1000 genomes];1.00[EUR][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	nsv430507	chr12:47883933-48079507	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1050043	chr12:47949004-48087218	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv899058	chr12:48012390-48082482	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv695	chr12:48043261-48088221	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv521329	chr12:48044011-48051456	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv975649	chr12:48047382-48053390	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48007400-48055400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:48015600-48055200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:48029400-48055400	Weak transcription	Thymus	Thymus
4	chr12:48029800-48098800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:48031000-48083200	Weak transcription	Esophagus	oesophagus
6	chr12:48031200-48051400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:48031200-48053200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:48031400-48058400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:48036600-48055400	Weak transcription	Ovary	ovary
10	chr12:48038200-48059400	Weak transcription	Small Intestine	intestine
11	chr12:48038600-48051400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:48039000-48052800	Weak transcription	Dnd41	blood
13	chr12:48039200-48052800	Weak transcription	Fetal Intestine Large	intestine
14	chr12:48039400-48058400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:48040000-48051400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:48040200-48050000	Weak transcription	Primary B cells from cord blood	blood
17	chr12:48040600-48086000	Weak transcription	Fetal Brain Male	brain
18	chr12:48042200-48058400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:48042400-48060200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:48042600-48054800	Weak transcription	Placenta	Placenta
21	chr12:48043200-48054600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:48043400-48080000	Weak transcription	NHEK	skin
23	chr12:48043800-48053600	Weak transcription	Left Ventricle	heart
24	chr12:48043800-48055600	Weak transcription	Right Ventricle	heart
25	chr12:48045000-48051800	Weak transcription	Aorta	Aorta
26	chr12:48045000-48055200	Weak transcription	NH-A	brain
27	chr12:48045200-48052000	Weak transcription	Brain Germinal Matrix	brain
28	chr12:48045200-48059600	Weak transcription	HMEC	breast
29	chr12:48045200-48060200	Weak transcription	Spleen	Spleen
30	chr12:48045200-48079200	Weak transcription	NHLF	lung
31	chr12:48045400-48053800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr12:48045400-48055800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr12:48045600-48050400	Weak transcription	Fetal Thymus	thymus
34	chr12:48045600-48050800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:48045600-48051000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr12:48045600-48053000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:48045600-48054600	Weak transcription	Osteobl	bone
38	chr12:48045600-48055800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:48045600-48055800	Weak transcription	Hela-S3	cervix
40	chr12:48045600-48056600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr12:48045600-48062200	Weak transcription	Stomach Mucosa	stomach
42	chr12:48045800-48052800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr12:48045800-48052800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr12:48045800-48053000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr12:48045800-48058200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:48045800-48058400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr12:48046000-48052200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:48046000-48055400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:48046000-48058400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr12:48046200-48053400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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