Variant report

Variant	rs2298103
Chromosome Location	chr1:75202870-75202871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:75197640..75200637-chr1:75200867..75204722,5	MCF-7	breast:
2	chr1:75197578..75200968-chr1:75201632..75206969,6	MCF-7	breast:
3	chr1:75200664..75203474-chr1:76250808..76253106,2	K562	blood:

Variant related genes	Relation type
ENSG00000116791	Chromatin interaction
ENSG00000162623	Chromatin interaction
ENSG00000206620	Chromatin interaction
ENSG00000137955	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs17095870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17095882	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17095896	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17095902	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17095905	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17095908	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17095922	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17095923	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17095926	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17095931	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17095937	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17095940	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17095986	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17553114	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17617950	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17618148	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1820294	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28557039	0.94[EUR][1000 genomes]
rs28653708	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57396966	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61543507	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72968202	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72970010	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72970049	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72973608	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72973615	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74095169	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524288	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7526913	1.00[AMR][1000 genomes];0.93[EUR][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	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv830259	chr1:75089177-75241062	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1851105	chr1:75152186-75302921	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr1:75199200-75203000	Weak transcription	Spleen	Spleen
2	chr1:75199400-75203000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:75199400-75203000	Weak transcription	Lung	lung
4	chr1:75199400-75203400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:75199400-75203800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:75199600-75203000	Weak transcription	Left Ventricle	heart
7	chr1:75199600-75203000	Weak transcription	Pancreas	Pancrea
8	chr1:75199600-75203200	Weak transcription	Esophagus	oesophagus
9	chr1:75199600-75203200	Weak transcription	Gastric	stomach
10	chr1:75199600-75206000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:75199800-75207800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:75200000-75203000	Weak transcription	Thymus	Thymus
13	chr1:75200000-75203200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:75200000-75231600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:75200200-75203000	Weak transcription	Brain Germinal Matrix	brain
16	chr1:75200200-75203000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:75200200-75203000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:75200200-75203200	Weak transcription	Aorta	Aorta
19	chr1:75200200-75203200	Weak transcription	Fetal Intestine Small	intestine
20	chr1:75200200-75203400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:75200200-75205200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:75200200-75217600	Weak transcription	Stomach Mucosa	stomach
23	chr1:75200400-75203000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:75200400-75203000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:75200400-75203000	Weak transcription	Right Ventricle	heart
26	chr1:75200400-75203200	Weak transcription	Fetal Stomach	stomach
27	chr1:75200400-75203600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:75200400-75210600	Weak transcription	Colonic Mucosa	Colon
29	chr1:75200400-75218400	Weak transcription	Fetal Heart	heart
30	chr1:75200600-75203000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:75200600-75203000	Weak transcription	Small Intestine	intestine
32	chr1:75200800-75203000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr1:75200800-75203000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:75200800-75203200	Weak transcription	Fetal Brain Female	brain
35	chr1:75200800-75203200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:75200800-75203600	Weak transcription	Psoas Muscle	Psoas
37	chr1:75201000-75203200	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:75201000-75203200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:75201000-75206000	Strong transcription	Fetal Lung	lung
40	chr1:75201200-75206200	Strong transcription	HSMM	muscle
41	chr1:75201200-75210600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:75201200-75212400	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:75201400-75203000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:75201400-75212800	Strong transcription	Primary B cells from cord blood	blood
45	chr1:75201400-75231800	Strong transcription	Dnd41	blood
46	chr1:75201600-75203000	Weak transcription	Primary T cells from cord blood	blood
47	chr1:75201600-75203000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:75201600-75206200	Strong transcription	HUVEC	blood vessel
49	chr1:75201800-75203000	Weak transcription	GM12878-XiMat	blood
50	chr1:75202000-75208600	Strong transcription	HUES48 Cell Line	embryonic stem cell

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