Variant report

Variant	rs73192143
Chromosome Location	chr7:105202415-105202416
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:105199426..105202631-chr7:105202934..105206159,4	K562	blood:
2	chr7:105171298..105173871-chr7:105199474..105202532,3	K562	blood:
3	chr7:105170515..105175315-chr7:105197117..105202532,9	K562	blood:
4	chr7:105171291..105174170-chr7:105201566..105204350,2	MCF-7	breast:
5	chr7:105202070..105204888-chr7:105208755..105210562,2	K562	blood:

Variant related genes	Relation type
ENSG00000135249	Chromatin interaction
ENSG00000223886	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs11556986	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1355614	0.89[EUR][1000 genomes]
rs1569134	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706908	0.89[EUR][1000 genomes]
rs1721498	0.86[EUR][1000 genomes]
rs1721500	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17343556	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1976969	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2392749	0.87[EUR][1000 genomes]
rs3892297	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3892298	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074939	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4083246	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55691539	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55700120	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55701318	1.00[ASN][1000 genomes]
rs55740553	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55794529	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55825845	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55906043	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55922564	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55967123	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55983796	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56055535	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56144672	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56165465	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56177071	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56230603	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56239334	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56251768	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56268110	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56379434	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57492756	1.00[ASN][1000 genomes]
rs58194204	1.00[ASN][1000 genomes]
rs68153235	0.87[EUR][1000 genomes]
rs6943132	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944787	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955796	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6956234	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6956249	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957192	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957424	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6961233	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6961863	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969426	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973263	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973974	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977748	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs711430	0.89[EUR][1000 genomes]
rs711431	0.85[EUR][1000 genomes]
rs73190133	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190149	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190151	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190155	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190156	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190158	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190161	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190163	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190166	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190167	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190169	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190172	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190174	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190175	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190178	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73190179	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190181	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190183	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190184	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190186	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190187	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190189	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190193	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190200	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190201	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190202	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192105	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192107	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192115	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192120	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192122	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192124	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192125	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192126	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192141	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192144	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192145	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192149	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192150	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192151	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192152	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73192153	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777343	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818619	0.88[EUR][1000 genomes]
rs818620	0.89[EUR][1000 genomes]
rs818621	0.89[EUR][1000 genomes]
rs818628	0.94[EUR][1000 genomes]
rs9769403	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv464668	chr7:105088693-105208492	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv608069	chr7:105088693-105208492	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105173400-105208200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:105173400-105210200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:105174000-105204200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:105174000-105210200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:105174000-105212200	Weak transcription	Fetal Heart	heart
6	chr7:105174200-105210200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:105174200-105213800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:105174600-105210400	Weak transcription	Psoas Muscle	Psoas
9	chr7:105174600-105213200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:105174800-105209200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:105175000-105210400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:105175400-105211000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:105175600-105209600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:105176000-105208600	Strong transcription	Placenta	Placenta
15	chr7:105176000-105210000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr7:105176000-105210200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:105176000-105210400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:105176000-105210400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr7:105176200-105210400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr7:105176200-105210400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr7:105176400-105209200	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr7:105176600-105210200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:105176800-105210400	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr7:105177000-105209200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:105177000-105210200	Strong transcription	Liver	Liver
26	chr7:105177200-105209400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr7:105183600-105211000	Weak transcription	Small Intestine	intestine
28	chr7:105184200-105204400	Weak transcription	Fetal Brain Male	brain
29	chr7:105186400-105206600	Strong transcription	Fetal Muscle Trunk	muscle
30	chr7:105186400-105210400	Strong transcription	Adipose Nuclei	Adipose
31	chr7:105187800-105210800	Weak transcription	Stomach Mucosa	stomach
32	chr7:105188000-105214200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:105191000-105208200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr7:105191000-105210200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:105191800-105207600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr7:105192200-105205800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr7:105193000-105204600	Weak transcription	Gastric	stomach
38	chr7:105193000-105208200	Weak transcription	Right Ventricle	heart
39	chr7:105193200-105221400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr7:105193200-105221600	Weak transcription	Aorta	Aorta
41	chr7:105194600-105210200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:105194600-105211000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:105194800-105209200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:105195000-105209600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr7:105195600-105207600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr7:105195800-105204000	Weak transcription	Colon Smooth Muscle	Colon
47	chr7:105195800-105204400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:105196000-105204200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:105196000-105204200	Weak transcription	NHLF	lung
50	chr7:105196000-105221600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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