Variant report

Variant	rs35717937
Chromosome Location	chr12:39788637-39788638
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:39788415..39791571-chr12:39793998..39797026,3	K562	blood:
2	chr12:39785456..39789344-chr12:39830749..39834519,3	K562	blood:
3	chr12:39786953..39789254-chr12:39835889..39837939,2	K562	blood:

Variant related genes	Relation type
ENSG00000252974	Chromatin interaction
ENSG00000139116	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10243	1.00[CHD][hapmap]
rs11171704	1.00[CHD][hapmap]
rs11171717	1.00[CHD][hapmap]
rs11172084	1.00[CHD][hapmap]
rs11611042	1.00[CHB][hapmap]
rs11834736	1.00[CHB][hapmap]
rs34237072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34790877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35713291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7303100	1.00[CHD][hapmap]
rs7957628	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832376	chr12:39633080-39808277	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39761800-39806000	Weak transcription	Hela-S3	cervix
2	chr12:39767600-39791400	Weak transcription	GM12878-XiMat	blood
3	chr12:39780400-39789800	Weak transcription	HepG2	liver
4	chr12:39781200-39791400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:39781400-39800200	Weak transcription	Brain Angular Gyrus	brain
6	chr12:39782200-39796800	Weak transcription	A549	lung
7	chr12:39784800-39789400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr12:39785000-39791200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:39785000-39796800	Weak transcription	HMEC	breast
10	chr12:39785000-39829200	Weak transcription	K562	blood
11	chr12:39785200-39796400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:39785400-39789600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:39785400-39796600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:39785600-39790000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:39785800-39788800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:39786000-39789000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:39786000-39789000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr12:39786000-39790000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:39786200-39788800	Enhancers	Fetal Brain Female	brain
20	chr12:39786400-39788800	Enhancers	Fetal Brain Male	brain
21	chr12:39786400-39791200	Weak transcription	Psoas Muscle	Psoas
22	chr12:39786400-39796800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:39786600-39791400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:39787000-39788800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr12:39787200-39789200	Weak transcription	Left Ventricle	heart
26	chr12:39787400-39789400	Weak transcription	Right Atrium	heart
27	chr12:39788000-39791400	Weak transcription	Gastric	stomach
28	chr12:39788200-39788800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr12:39788200-39789000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:39788200-39789200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:39788200-39789400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr12:39788400-39788800	Enhancers	Brain Germinal Matrix	brain
33	chr12:39788400-39789000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr12:39788400-39789400	Enhancers	H9 Cell Line	embryonic stem cell
35	chr12:39788400-39790000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr12:39788400-39791400	Enhancers	Fetal Heart	heart
37	chr12:39788600-39788800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr12:39788600-39788800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:39788600-39788800	Enhancers	Right Ventricle	heart

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