Variant report

Variant	rs12939229
Chromosome Location	chr17:37431612-37431613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:37407020..37409663-chr17:37431411..37433036,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12940956	1.00[EUR][1000 genomes]
rs12943974	1.00[EUR][1000 genomes]
rs12944316	1.00[EUR][1000 genomes]
rs12945363	1.00[EUR][1000 genomes]
rs12946021	0.81[AFR][1000 genomes]
rs12947913	0.91[AFR][1000 genomes]
rs34170152	1.00[EUR][1000 genomes]
rs34335611	0.81[AFR][1000 genomes]
rs34729392	0.88[AFR][1000 genomes]
rs34821956	1.00[EUR][1000 genomes]
rs35152961	1.00[EUR][1000 genomes]
rs35269184	1.00[EUR][1000 genomes]
rs35790121	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35829705	1.00[EUR][1000 genomes]
rs35846515	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36106822	1.00[EUR][1000 genomes]
rs6503512	1.00[EUR][1000 genomes]
rs71369739	0.89[AFR][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:12 , 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	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
6	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
7	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
8	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
9	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
10	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
11	nsv1057057	chr17:37395082-37627025	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	nsv1055612	chr17:37409865-37563236	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37401000-37433000	Weak transcription	Fetal Heart	heart
2	chr17:37401000-37437000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr17:37401400-37437400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr17:37405000-37437000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr17:37407200-37439200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr17:37408000-37440200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr17:37408000-37441600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:37408000-37463000	Weak transcription	Small Intestine	intestine
9	chr17:37408200-37442400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr17:37408400-37437400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr17:37409000-37432800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr17:37409000-37438800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr17:37409400-37437400	Weak transcription	HUVEC	blood vessel
14	chr17:37409800-37437400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr17:37409800-37464000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr17:37410000-37437200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr17:37411600-37437400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr17:37414400-37432000	Strong transcription	Fetal Stomach	stomach
19	chr17:37415000-37443600	Weak transcription	Psoas Muscle	Psoas
20	chr17:37415200-37433800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr17:37417400-37458600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr17:37417600-37437400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr17:37417600-37460800	Weak transcription	Fetal Brain Male	brain
24	chr17:37417800-37433200	Weak transcription	GM12878-XiMat	blood
25	chr17:37417800-37437000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr17:37418000-37437200	Weak transcription	Stomach Mucosa	stomach
27	chr17:37418400-37440800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr17:37420600-37437000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr17:37421600-37436600	Weak transcription	K562	blood
30	chr17:37421600-37437000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr17:37421600-37437000	Weak transcription	A549	lung
32	chr17:37421800-37436800	Strong transcription	Fetal Intestine Small	intestine
33	chr17:37421800-37437000	Weak transcription	HSMM	muscle
34	chr17:37424200-37437000	Weak transcription	Hela-S3	cervix
35	chr17:37425000-37473000	Weak transcription	Pancreas	Pancrea
36	chr17:37425200-37435200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr17:37425200-37437000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr17:37425200-37437000	Weak transcription	NH-A	brain
39	chr17:37426200-37453800	Weak transcription	Aorta	Aorta
40	chr17:37426600-37436800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr17:37426600-37437400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr17:37426600-37460800	Weak transcription	Colonic Mucosa	Colon
43	chr17:37426800-37468600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr17:37427000-37436800	Weak transcription	NHLF	lung
45	chr17:37427200-37437000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr17:37427400-37437000	Weak transcription	Osteobl	bone
47	chr17:37428000-37432000	Strong transcription	Thymus	Thymus
48	chr17:37428600-37432200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr17:37429000-37432800	Strong transcription	Placenta	Placenta
50	chr17:37429200-37439400	Strong transcription	Primary monocytes fromperipheralblood	blood

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