Variant report

Variant	rs68113831
Chromosome Location	chr7:104860104-104860105
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104853847..104856619-chr7:104856817..104860250,3	MCF-7	breast:
2	chr7:104859053..104861478-chr7:105026669..105029357,2	MCF-7	breast:
3	chr7:104859062..104861835-chr7:104863992..104867618,5	MCF-7	breast:
4	chr7:104858335..104861372-chr7:104862250..104865906,3	MCF-7	breast:
5	chr7:104855613..104857301-chr7:104859223..104860789,2	K562	blood:

Variant related genes	Relation type
ENSG00000135250	Chromatin interaction

Extended variants
information (count: 135 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs1010340	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10224539	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10953475	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1135958	0.87[EUR][1000 genomes]
rs1204061	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154942	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12155184	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12155351	0.87[EUR][1000 genomes]
rs12530690	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12532134	0.89[EUR][1000 genomes]
rs12532188	0.88[EUR][1000 genomes]
rs12532201	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532268	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533264	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12533348	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12534381	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535043	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12535338	0.92[ASN][1000 genomes]
rs12536794	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12537196	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537307	0.87[EUR][1000 genomes]
rs12538590	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1468359	0.89[EUR][1000 genomes]
rs1558048	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17270450	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17342493	0.83[EUR][1000 genomes]
rs17640508	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17640599	0.90[EUR][1000 genomes]
rs17640644	0.89[EUR][1000 genomes]
rs17640711	0.87[EUR][1000 genomes]
rs17707802	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17707878	0.90[EUR][1000 genomes]
rs17708070	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040915	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2079340	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2079341	0.88[EUR][1000 genomes]
rs2299309	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2299327	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299328	0.90[EUR][1000 genomes]
rs2385557	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3087867	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35787127	0.90[EUR][1000 genomes]
rs3801279	0.90[EUR][1000 genomes]
rs4406343	0.86[EUR][1000 genomes]
rs4605996	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55671517	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55712418	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55949446	0.90[EUR][1000 genomes]
rs56132497	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56251298	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56269269	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56281713	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56338352	0.86[EUR][1000 genomes]
rs57423264	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57599523	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60358227	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466048	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466049	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466050	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6466051	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466061	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66469172	0.88[EUR][1000 genomes]
rs66482905	0.84[EUR][1000 genomes]
rs66638610	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66790006	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66912872	0.87[EUR][1000 genomes]
rs67154126	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67162771	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67180946	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67421818	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67505443	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67529088	0.90[EUR][1000 genomes]
rs67620169	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67780803	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67909511	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6942483	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945585	0.90[EUR][1000 genomes]
rs6949073	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949830	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950104	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952458	0.85[ASN][1000 genomes]
rs6954293	0.87[EUR][1000 genomes]
rs6954421	0.88[EUR][1000 genomes]
rs6954692	0.88[EUR][1000 genomes]
rs6954777	0.88[EUR][1000 genomes]
rs6954830	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6954844	0.87[EUR][1000 genomes]
rs6955133	0.90[EUR][1000 genomes]
rs6955753	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6958609	0.88[EUR][1000 genomes]
rs6959826	0.88[ASN][1000 genomes]
rs6963624	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963661	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966539	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6968238	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968335	0.85[EUR][1000 genomes]
rs6972563	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973338	0.86[EUR][1000 genomes]
rs6973708	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6974780	0.87[EUR][1000 genomes]
rs6974874	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974890	0.87[EUR][1000 genomes]
rs6978954	0.85[EUR][1000 genomes]
rs6979284	0.87[EUR][1000 genomes]
rs73186009	1.00[ASN][1000 genomes]
rs73186041	0.89[EUR][1000 genomes]
rs73186054	0.88[EUR][1000 genomes]
rs7776832	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780006	0.87[EUR][1000 genomes]
rs7782673	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7782827	0.87[EUR][1000 genomes]
rs7790653	0.88[EUR][1000 genomes]
rs7794036	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794285	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7796274	0.85[EUR][1000 genomes]
rs7796945	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7797988	0.86[EUR][1000 genomes]
rs7801685	0.82[EUR][1000 genomes]
rs7802168	0.88[EUR][1000 genomes]
rs7802568	0.89[EUR][1000 genomes]
rs7802653	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805639	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7805928	0.87[EUR][1000 genomes]
rs7808226	0.89[EUR][1000 genomes]
rs7809329	0.92[ASN][1000 genomes]
rs7809464	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS 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	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers 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	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104842200-104865400	Weak transcription	K562	blood
2	chr7:104843200-104863400	Weak transcription	HepG2	liver
3	chr7:104844000-104863200	Weak transcription	Fetal Intestine Large	intestine
4	chr7:104844200-104869000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:104844200-104869000	Weak transcription	Fetal Intestine Small	intestine
6	chr7:104844200-104869000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr7:104847200-104862600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:104848600-104860200	Genic enhancers	Dnd41	blood
9	chr7:104851400-104863400	Weak transcription	Ovary	ovary
10	chr7:104851600-104878600	Weak transcription	Right Ventricle	heart
11	chr7:104851800-104870400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr7:104852000-104862000	Weak transcription	Right Atrium	heart
13	chr7:104852000-104863400	Weak transcription	Left Ventricle	heart
14	chr7:104852000-104863400	Weak transcription	Pancreas	Pancrea
15	chr7:104852200-104863400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:104852200-104863400	Weak transcription	Fetal Thymus	thymus
17	chr7:104853200-104865400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:104853600-104869000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:104854400-104865800	Weak transcription	Fetal Kidney	kidney
20	chr7:104854600-104863400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:104854600-104865400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:104854800-104863400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:104854800-104865200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:104854800-104865600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr7:104855200-104865800	Weak transcription	Primary T cells from cord blood	blood
26	chr7:104855800-104863600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr7:104856000-104863400	Weak transcription	Small Intestine	intestine
28	chr7:104856800-104865400	Weak transcription	Primary B cells from cord blood	blood
29	chr7:104857200-104860600	Enhancers	A549	lung
30	chr7:104857200-104860600	Enhancers	Hela-S3	cervix
31	chr7:104857200-104860800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:104857200-104861400	Enhancers	HMEC	breast
33	chr7:104857400-104861800	Weak transcription	Brain Angular Gyrus	brain
34	chr7:104858000-104860400	Flanking Active TSS	NHEK	skin
35	chr7:104858000-104865400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr7:104858200-104861600	Weak transcription	Brain Substantia Nigra	brain
37	chr7:104858600-104861600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr7:104858600-104861600	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:104858600-104862000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr7:104858600-104865400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:104858800-104860200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr7:104858800-104860800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:104858800-104862000	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:104858800-104863600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:104858800-104865400	Weak transcription	Thymus	Thymus
46	chr7:104859000-104863400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr7:104859000-104863600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:104859000-104863800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr7:104859000-104865600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr7:104859000-104869000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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