Variant report

Variant	rs1227172
Chromosome Location	chr7:112410592-112410593
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:112408835..112410888-chr7:112429996..112432530,2	MCF-7	breast:
2	chr7:112404506..112406748-chr7:112410039..112411615,3	K562	blood:
3	chr7:112409860..112412576-chr7:112428996..112430637,2	MCF-7	breast:
4	chr7:112400628..112403193-chr7:112407216..112411112,3	K562	blood:
5	chr7:112410137..112411740-chr7:112414303..112416714,2	MCF-7	breast:
6	chr7:112409472..112411326-chr7:112412053..112414787,2	K562	blood:

Variant related genes	Relation type
ENSG00000146802	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10216223	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10247759	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10249701	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10269793	0.90[ASN][1000 genomes]
rs10271752	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10273589	0.90[ASN][1000 genomes]
rs10280638	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1227155	0.90[ASN][1000 genomes]
rs1227158	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1227159	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1227163	0.90[ASN][1000 genomes]
rs1227168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1227171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1227174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1227176	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1227177	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1227178	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1227181	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1227183	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1227190	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1238698	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1615468	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1718955	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718957	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718961	0.81[ASN][1000 genomes]
rs1718969	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1796491	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796492	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796493	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796512	0.81[ASN][1000 genomes]
rs1796516	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1922907	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2028028	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2457	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2708295	0.81[ASN][1000 genomes]
rs2708296	0.81[ASN][1000 genomes]
rs6466421	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945635	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6946335	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6948876	0.90[ASN][1000 genomes]
rs6955834	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970266	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs726593	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7777973	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7778135	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7789772	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7803405	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9649356	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9655816	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv2752144	chr7:112398372-112499924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112385400-112422400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:112389000-112422800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:112389200-112412800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:112390200-112422800	Weak transcription	Thymus	Thymus
5	chr7:112391600-112418200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:112393600-112429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:112395200-112422600	Weak transcription	Right Ventricle	heart
8	chr7:112395600-112422400	Weak transcription	Aorta	Aorta
9	chr7:112396200-112428600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:112397000-112418000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:112397000-112428000	Weak transcription	Fetal Intestine Small	intestine
12	chr7:112397400-112422200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:112397600-112429600	Weak transcription	Pancreas	Pancrea
14	chr7:112398800-112428800	Weak transcription	Gastric	stomach
15	chr7:112400000-112426800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr7:112400200-112422400	Weak transcription	Left Ventricle	heart
17	chr7:112400200-112429000	Weak transcription	HSMM	muscle
18	chr7:112400600-112428600	Weak transcription	Brain Substantia Nigra	brain
19	chr7:112402000-112412200	Weak transcription	Primary B cells from cord blood	blood
20	chr7:112403400-112428600	Weak transcription	Fetal Stomach	stomach
21	chr7:112404800-112422400	Weak transcription	Fetal Thymus	thymus
22	chr7:112404800-112422400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:112404800-112427000	Weak transcription	Small Intestine	intestine
24	chr7:112404800-112428800	Weak transcription	Spleen	Spleen
25	chr7:112405000-112421200	Weak transcription	HUVEC	blood vessel
26	chr7:112405000-112423400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:112405200-112422400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr7:112405200-112422600	Weak transcription	Liver	Liver
29	chr7:112405400-112419800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr7:112405400-112423200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr7:112405400-112423400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:112405400-112428400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr7:112405600-112412600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr7:112405600-112420000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr7:112405600-112422400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr7:112405600-112428800	Weak transcription	Osteobl	bone
37	chr7:112405800-112414800	Weak transcription	Brain Angular Gyrus	brain
38	chr7:112405800-112421400	Weak transcription	Stomach Mucosa	stomach
39	chr7:112405800-112422800	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr7:112405800-112422800	Weak transcription	Lung	lung
41	chr7:112405800-112422800	Weak transcription	K562	blood
42	chr7:112405800-112428200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr7:112405800-112428800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr7:112406000-112422600	Weak transcription	Fetal Muscle Leg	muscle
45	chr7:112406000-112428800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:112406000-112429000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:112406200-112418000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr7:112406200-112422600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:112406200-112422800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr7:112406400-112422400	Weak transcription	Psoas Muscle	Psoas

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