Variant report

Variant	rs12155421
Chromosome Location	chr7:127675641-127675642
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:127674636-127676469	SK-N-SH	brain:	n/a	chr7:127675966-127675987
2	CTCF	chr7:127675640-127675790	GM12865	blood:	n/a	n/a
3	POLR2A	chr7:127675619-127675653	MCF10A-Er-Src	breast:	n/a	n/a
4	CTCF	chr7:127675615-127676298	A549	lung:	n/a	chr7:127675966-127675987
5	CTCF	chr7:127675620-127675770	HUVEC	blood vessel:	n/a	n/a
6	CTCF	chr7:127675520-127675670	BE2_C	brain:	n/a	n/a
7	GATA3	chr7:127675578-127675975	SH-SY5Y	brain:	n/a	n/a
8	RAD21	chr7:127674615-127678389	SK-N-SH	brain:	n/a	chr7:127675967-127675974 chr7:127678092-127678101 chr7:127678092-127678106
9	SMC3	chr7:127674315-127676929	SK-N-SH	brain:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127675507..127676204-chr7:127849524..127850279,2	K562	blood:
2	chr7:127666110..127668774-chr7:127674158..127676432,2	K562	blood:
3	chr7:127432952..127433456-chr7:127675479..127676053,2	MCF-7	breast:
4	chr7:127675627..127676293-chr7:127775515..127776488,2	MCF-7	breast:
5	chr7:127675207..127677284-chr7:127698016..127699681,2	K562	blood:
6	chr7:127666110..127669340-chr7:127673259..127677722,5	K562	blood:
7	chr7:127645845..127647597-chr7:127674557..127676865,2	K562	blood:
8	chr7:127675464..127676657-chr7:127849512..127850418,10	MCF-7	breast:
9	chr7:127432543..127434957-chr7:127674318..127675845,2	MCF-7	breast:
10	chr7:127669395..127671231-chr7:127673315..127675845,3	K562	blood:
11	chr7:127675116..127676468-chr7:127849458..127850473,8	MCF-7	breast:
12	chr7:127675004..127676974-chr7:127848145..127849167,8	MCF-7	breast:
13	chr7:127674537..127676046-chr7:127845296..127847956,2	MCF-7	breast:
14	chr7:127348555..127349486-chr7:127675497..127676228,3	MCF-7	breast:

No data

Variant related genes	Relation type
LRRC4	TF binding region
ENSG00000128594	Chromatin interaction
ENSG00000207705	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10487499	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487502	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154492	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12375023	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531847	1.00[ASN][1000 genomes]
rs12532894	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533765	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12534918	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706816	1.00[ASN][1000 genomes]
rs12706818	1.00[ASN][1000 genomes]
rs12706820	1.00[ASN][1000 genomes]
rs12706821	1.00[ASN][1000 genomes]
rs12706822	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706823	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13227201	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13229973	1.00[ASN][1000 genomes]
rs13231367	1.00[ASN][1000 genomes]
rs13246200	1.00[ASN][1000 genomes]
rs13246286	1.00[ASN][1000 genomes]
rs1345283	1.00[ASN][1000 genomes]
rs1362898	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419970	1.00[ASN][1000 genomes]
rs17151466	1.00[ASN][1000 genomes]
rs17151488	1.00[ASN][1000 genomes]
rs17151507	1.00[ASN][1000 genomes]
rs17151639	0.94[EUR][1000 genomes]
rs17151653	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151668	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151682	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151707	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17151739	0.83[AMR][1000 genomes]
rs17676654	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34026100	1.00[ASN][1000 genomes]
rs34688920	1.00[ASN][1000 genomes]
rs35154268	1.00[ASN][1000 genomes]
rs55660321	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58489175	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467157	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67827668	1.00[ASN][1000 genomes]
rs6948605	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953231	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962635	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73232968	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232972	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238078	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238088	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73239704	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs741094	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7785596	1.00[ASN][1000 genomes]
rs7805021	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810024	1.00[ASN][1000 genomes]
rs9649512	0.82[EUR][1000 genomes];1.00[ASN][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127645000-127684000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:127669400-127726600	Weak transcription	Hela-S3	cervix
3	chr7:127669600-127718200	Weak transcription	A549	lung
4	chr7:127670400-127698800	Weak transcription	Dnd41	blood
5	chr7:127670800-127681400	Weak transcription	HepG2	liver
6	chr7:127672200-127678200	Weak transcription	Liver	Liver
7	chr7:127672200-127681000	Weak transcription	NHEK	skin
8	chr7:127672200-127681400	Weak transcription	NHDF-Ad	bronchial
9	chr7:127672600-127695400	Weak transcription	Aorta	Aorta
10	chr7:127672800-127682200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:127673000-127676000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:127673000-127677600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:127673000-127680800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:127673000-127681200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:127673000-127681800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr7:127673000-127692600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:127673000-127692800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr7:127673000-127697800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:127673200-127675800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:127673200-127678200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr7:127673200-127680800	Weak transcription	NHLF	lung
22	chr7:127673200-127681000	Weak transcription	HMEC	breast
23	chr7:127673200-127681800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:127673200-127682400	Weak transcription	Lung	lung
25	chr7:127673200-127682400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr7:127673200-127684000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr7:127673200-127684800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:127673200-127692600	Weak transcription	Right Atrium	heart
29	chr7:127673200-127712000	Weak transcription	Esophagus	oesophagus
30	chr7:127673400-127680600	Weak transcription	Brain Substantia Nigra	brain
31	chr7:127673400-127681000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:127673400-127682200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:127673400-127682400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:127673400-127682400	Weak transcription	Placenta	Placenta
35	chr7:127673400-127684000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr7:127673400-127684000	Weak transcription	Left Ventricle	heart
37	chr7:127673600-127676000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr7:127673600-127676200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr7:127673600-127679200	Weak transcription	Fetal Intestine Large	intestine
40	chr7:127673600-127680800	Weak transcription	Brain Angular Gyrus	brain
41	chr7:127673600-127680800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr7:127673600-127681000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:127673600-127681200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr7:127673600-127681800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr7:127673600-127682400	Weak transcription	Spleen	Spleen
46	chr7:127673600-127692200	Weak transcription	Adipose Nuclei	Adipose
47	chr7:127673600-127692200	Weak transcription	Fetal Muscle Leg	muscle
48	chr7:127673600-127692200	Weak transcription	Gastric	stomach
49	chr7:127673800-127679200	Weak transcription	Fetal Intestine Small	intestine
50	chr7:127673800-127680800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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