Variant report

Variant	rs12946021
Chromosome Location	chr17:37393086-37393087
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr17:37391841-37393164	HEK293-T-REx	kidney:	n/a	n/a
2	NR3C1	chr17:37393051-37393516	A549	lung:	n/a	n/a
3	NFIC	chr17:37392739-37393185	ECC-1	luminal epithelium:	n/a	n/a
4	NR3C1	chr17:37393036-37393646	A549	lung:	n/a	chr17:37393577-37393590 chr17:37393629-37393642

No.	Distal block	Cell Line	Cell type
1	chr17:37392376..37395976-chr17:37399419..37404375,4	K562	blood:
2	chr17:37352537..37354970-chr17:37391325..37393533,2	MCF-7	breast:
3	chr17:37391846..37393580-chr17:37396421..37398094,2	K562	blood:
4	chr17:37355660..37358428-chr17:37392056..37395361,4	MCF-7	breast:
5	chr17:37392769..37394395-chr17:44952247..44954407,2	MCF-7	breast:
6	chr17:37361105..37363685-chr17:37390530..37393610,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265460	TF binding region
ENSG00000108298	Chromatin interaction
ENSG00000067191	Chromatin interaction
ENSG00000265460	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12939229	0.81[AFR][1000 genomes]
rs12947913	0.83[AFR][1000 genomes]
rs34335611	1.00[AFR][1000 genomes]
rs34729392	0.83[AFR][1000 genomes]
rs35790121	0.98[AFR][1000 genomes]
rs71369739	0.82[AFR][1000 genomes]
rs7225255	0.98[AFR][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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37388400-37393400	Weak transcription	Right Ventricle	heart
2	chr17:37388400-37394600	Weak transcription	Gastric	stomach
3	chr17:37388400-37394600	Weak transcription	Psoas Muscle	Psoas
4	chr17:37388400-37395000	Weak transcription	GM12878-XiMat	blood
5	chr17:37388400-37396000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:37388600-37394200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr17:37388600-37394400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr17:37388600-37394600	Weak transcription	Pancreas	Pancrea
9	chr17:37388800-37394200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr17:37388800-37396200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr17:37388800-37396200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr17:37389000-37394000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr17:37389000-37394800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr17:37391200-37395800	Weak transcription	Right Atrium	heart
15	chr17:37391400-37394400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr17:37391400-37396400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr17:37391800-37393200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr17:37391800-37393200	Enhancers	Fetal Muscle Leg	muscle
19	chr17:37391800-37393600	Enhancers	Fetal Brain Male	brain
20	chr17:37391800-37394400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr17:37391800-37394400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr17:37391800-37394400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr17:37391800-37394400	Enhancers	Hela-S3	cervix
24	chr17:37391800-37394600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr17:37391800-37394600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr17:37391800-37394600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr17:37391800-37394800	Enhancers	A549	lung
28	chr17:37392000-37393400	Enhancers	Fetal Brain Female	brain
29	chr17:37392000-37393600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr17:37392000-37394400	Weak transcription	Thymus	Thymus
31	chr17:37392000-37395800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr17:37392000-37396000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr17:37392200-37393600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr17:37392200-37393800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr17:37392200-37394400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr17:37392200-37396000	Weak transcription	Fetal Thymus	thymus
37	chr17:37392400-37393600	Weak transcription	Fetal Intestine Small	intestine
38	chr17:37392400-37393800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr17:37392400-37394000	Weak transcription	Dnd41	blood
40	chr17:37392400-37394400	Weak transcription	Fetal Lung	lung
41	chr17:37392400-37394600	Weak transcription	HMEC	breast
42	chr17:37392400-37395600	Weak transcription	K562	blood
43	chr17:37392600-37393200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr17:37392600-37393800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr17:37392600-37393800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr17:37392600-37394000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr17:37392800-37393800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr17:37392800-37395200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr17:37393000-37393200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr17:37393000-37394400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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