Variant report

Variant	rs12304310
Chromosome Location	chr12:119851180-119851181
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:119633765..119636889-chr12:119849565..119852732,3	MCF-7	breast:
2	chr12:119458269..119459265-chr12:119850713..119851633,4	K562	blood:
3	chr12:119765671..119766355-chr12:119850911..119851698,3	K562	blood:
4	chr12:119552810..119553329-chr12:119850727..119851485,3	K562	blood:
5	chr12:119765655..119766458-chr12:119850699..119851560,2	MCF-7	breast:
6	chr12:119417235..119417851-chr12:119850790..119851632,2	K562	blood:
7	chr12:119552855..119553752-chr12:119850687..119851631,3	MCF-7	breast:
8	chr12:119151694..119152462-chr12:119850745..119851652,2	MCF-7	breast:
9	chr12:119850762..119851328-chr12:119881955..119882815,2	MCF-7	breast:
10	chr12:119850295..119851264-chr12:119982488..119983086,2	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11064774	0.83[YRI][hapmap]
rs11064788	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614625	1.00[CEU][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296267	0.91[AFR][1000 genomes]
rs12320164	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322637	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16949273	1.00[ASN][1000 genomes]
rs7138164	1.00[ASN][1000 genomes]
rs7303237	0.83[CEU][hapmap]
rs73217222	1.00[ASN][1000 genomes]
rs7955745	1.00[ASN][1000 genomes]
rs7969150	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	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv916688	chr12:119801814-120044407	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv899553	chr12:119837250-119876571	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119848600-119853000	Weak transcription	Placenta	Placenta
2	chr12:119849400-119851600	Enhancers	Rectal Smooth Muscle	rectum
3	chr12:119849600-119851200	Enhancers	Colon Smooth Muscle	Colon
4	chr12:119849600-119851600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:119850400-119851600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:119850600-119851200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr12:119850800-119851200	Flanking Active TSS	Brain Anterior Caudate	brain
8	chr12:119850800-119851200	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr12:119850800-119851200	Enhancers	Brain Substantia Nigra	brain
10	chr12:119850800-119851400	Enhancers	Brain Angular Gyrus	brain
11	chr12:119850800-119851400	Enhancers	Fetal Brain Male	brain
12	chr12:119850800-119851400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr12:119850800-119851600	Enhancers	Right Ventricle	heart
14	chr12:119851000-119851200	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr12:119851000-119851200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:119851000-119851200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
17	chr12:119851000-119851200	Enhancers	Brain Cingulate Gyrus	brain
18	chr12:119851000-119851400	Enhancers	Stomach Smooth Muscle	stomach

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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