Variant report

Variant	rs6712224
Chromosome Location	chr2:7200450-7200451
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs57420744	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62107978	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6431843	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6431844	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6726858	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7575969	0.91[EUR][1000 genomes];0.94[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	nsv469394	chr2:7197199-7230988	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv580914	chr2:7197199-7230988	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv915888	chr2:7197783-7461967	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7188800-7200800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr2:7189400-7203200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:7189400-7213800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:7194200-7234000	Weak transcription	Pancreas	Pancrea
5	chr2:7194400-7202200	Weak transcription	Ovary	ovary
6	chr2:7194400-7210800	Weak transcription	Lung	lung
7	chr2:7194600-7201800	Weak transcription	Fetal Kidney	kidney
8	chr2:7194600-7206400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:7194800-7202800	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:7195000-7217000	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:7195600-7201000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr2:7196000-7200600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr2:7196400-7200600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:7196800-7202000	Weak transcription	Right Atrium	heart
15	chr2:7198000-7202200	Weak transcription	Adipose Nuclei	Adipose
16	chr2:7198400-7200800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr2:7198600-7200600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr2:7198600-7201000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr2:7199000-7200600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:7199200-7200800	Enhancers	Primary T cells from cord blood	blood
21	chr2:7199400-7200600	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr2:7199600-7201000	Enhancers	Aorta	Aorta
23	chr2:7199800-7200600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:7199800-7202200	Weak transcription	Psoas Muscle	Psoas
25	chr2:7199800-7203400	Enhancers	Fetal Stomach	stomach
26	chr2:7200000-7200600	Active TSS	Thymus	Thymus
27	chr2:7200000-7203200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:7200000-7203400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:7200000-7203400	Weak transcription	Fetal Thymus	thymus
30	chr2:7200200-7201400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr2:7200200-7203200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr2:7200400-7201000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:7200400-7202400	Strong transcription	Dnd41	blood
34	chr2:7200400-7203600	Enhancers	Colon Smooth Muscle	Colon
35	chr2:7200400-7203600	Enhancers	Rectal Smooth Muscle	rectum

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