Variant report

Variant	rs12943974
Chromosome Location	chr17:37388847-37388848
allele	A/G
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

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

No.	Distal block	Cell Line	Cell type
1	chr17:37364617..37365461-chr17:37388123..37388896,2	MCF-7	breast:
2	chr17:37363912..37364469-chr17:37388281..37388909,2	K562	blood:
3	chr17:37355591..37358443-chr17:37387477..37390008,2	MCF-7	breast:
4	chr17:37381230..37383797-chr17:37387710..37390481,2	K562	blood:
5	chr17:37368364..37369008-chr17:37387951..37389047,3	K562	blood:
6	chr17:37355062..37368949-chr17:37377464..37389224,25	K562	blood:
7	chr17:37356601..37358342-chr17:37387250..37389319,3	K562	blood:
8	chr17:37388379..37390165-chr17:37392882..37394980,2	MCF-7	breast:
9	chr17:37386529..37388946-chr17:37423466..37425656,2	K562	blood:
10	chr17:37360836..37363197-chr17:37386687..37388864,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265460	Chromatin interaction
ENSG00000108298	Chromatin interaction
ENSG00000141750	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12939229	1.00[EUR][1000 genomes]
rs12940956	1.00[EUR][1000 genomes]
rs12944316	1.00[EUR][1000 genomes]
rs12945363	1.00[EUR][1000 genomes]
rs34170152	1.00[EUR][1000 genomes]
rs34821956	1.00[EUR][1000 genomes]
rs35152961	1.00[EUR][1000 genomes]
rs35269184	1.00[EUR][1000 genomes]
rs35790121	1.00[EUR][1000 genomes]
rs35829705	1.00[EUR][1000 genomes]
rs35846515	1.00[EUR][1000 genomes]
rs36106822	1.00[EUR][1000 genomes]
rs6503512	1.00[EUR][1000 genomes]
rs71369740	1.00[EUR][1000 genomes]
rs71369741	1.00[EUR][1000 genomes]
rs71369742	1.00[EUR][1000 genomes]
rs71369747	1.00[EUR][1000 genomes]
rs71577045	1.00[EUR][1000 genomes]
rs8064372	1.00[EUR][1000 genomes]
rs8069194	1.00[EUR][1000 genomes]
rs8071061	1.00[EUR][1000 genomes]
rs8072801	1.00[EUR][1000 genomes]
rs8073144	1.00[EUR][1000 genomes]
rs8077259	1.00[EUR][1000 genomes]
rs8077822	1.00[EUR][1000 genomes]
rs8079346	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057470	chr17:37135183-37549816	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv543339	chr17:37135183-37549816	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
4	nsv833441	chr17:37320807-37476796	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv908203	chr17:37327165-37405657	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv1061084	chr17:37333956-37501598	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
9	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
10	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
11	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37386800-37389000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:37387200-37389000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
3	chr17:37387200-37389400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr17:37387400-37389400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:37387600-37389000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr17:37387800-37389000	Bivalent Enhancer	Fetal Thymus	thymus
7	chr17:37388400-37389000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr17:37388400-37389000	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr17:37388400-37391800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr17:37388400-37393400	Weak transcription	Right Ventricle	heart
11	chr17:37388400-37394600	Weak transcription	Gastric	stomach
12	chr17:37388400-37394600	Weak transcription	Psoas Muscle	Psoas
13	chr17:37388400-37395000	Weak transcription	GM12878-XiMat	blood
14	chr17:37388400-37396000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr17:37388600-37394200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr17:37388600-37394400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr17:37388600-37394600	Weak transcription	Pancreas	Pancrea
18	chr17:37388800-37389000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:37388800-37389000	Bivalent Enhancer	HepG2	liver
20	chr17:37388800-37389200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr17:37388800-37390000	Weak transcription	Esophagus	oesophagus
22	chr17:37388800-37391400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr17:37388800-37391400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr17:37388800-37391800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr17:37388800-37391800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr17:37388800-37391800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr17:37388800-37391800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr17:37388800-37391800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr17:37388800-37391800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr17:37388800-37391800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr17:37388800-37391800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr17:37388800-37391800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr17:37388800-37391800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr17:37388800-37391800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr17:37388800-37391800	Weak transcription	Fetal Brain Male	brain
36	chr17:37388800-37391800	Weak transcription	Fetal Lung	lung
37	chr17:37388800-37391800	Weak transcription	A549	lung
38	chr17:37388800-37391800	Weak transcription	Dnd41	blood
39	chr17:37388800-37391800	Weak transcription	Hela-S3	cervix
40	chr17:37388800-37391800	Weak transcription	K562	blood
41	chr17:37388800-37392000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr17:37388800-37392000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr17:37388800-37392000	Weak transcription	Fetal Brain Female	brain
44	chr17:37388800-37394200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr17:37388800-37396200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr17:37388800-37396200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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