Variant report

Variant	rs73294088
Chromosome Location	chr17:37805684-37805685
allele	A/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	ATF1	chr17:37805308-37805692	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:37803789..37806636-chr17:37842343..37845661,3	K562	blood:
2	chr17:37777435..37780800-chr17:37803920..37808668,4	K562	blood:
3	chr17:37349410..37352300-chr17:37804947..37806562,2	K562	blood:

Variant related genes	Relation type
STARD3	TF binding region
ENSG00000141736	Chromatin interaction
ENSG00000067191	Chromatin interaction
ENSG00000161395	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1050293	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs15968	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934959	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934960	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934961	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934962	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934963	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934965	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934966	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2941510	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2941511	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2941512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2941513	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2941514	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2941515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2941516	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2941523	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2952139	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2952149	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2952150	0.92[EUR][1000 genomes]
rs57837184	0.97[AFR][1000 genomes]
rs59522915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73294092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73294095	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73294098	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73294102	0.81[AFR][1000 genomes]
rs73296106	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73296109	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73308310	0.81[AFR][1000 genomes]
rs73308323	0.87[AFR][1000 genomes]
rs73308326	0.97[AFR][1000 genomes]
rs73308329	0.84[AFR][1000 genomes]
rs73308333	0.87[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	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
2	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv833442	chr17:37692880-37861291	Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv908205	chr17:37709422-37830900	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv908206	chr17:37709422-37866005	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv833443	chr17:37725640-37882864	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
8	nsv457738	chr17:37770005-37831035	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv574991	chr17:37770005-37831035	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv516757	chr17:37781849-37834541	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
11	esv1792029	chr17:37797757-37886460	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37795000-37814000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr17:37795000-37823800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr17:37795200-37814000	Weak transcription	Aorta	Aorta
4	chr17:37795200-37814600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr17:37795400-37818000	Weak transcription	Fetal Kidney	kidney
6	chr17:37795600-37808600	Weak transcription	Fetal Lung	lung
7	chr17:37796200-37808000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr17:37796200-37808600	Strong transcription	Fetal Stomach	stomach
9	chr17:37796400-37810000	Weak transcription	Colon Smooth Muscle	Colon
10	chr17:37796400-37810800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr17:37796600-37807200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr17:37796600-37807200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr17:37796600-37807200	Weak transcription	Brain Substantia Nigra	brain
14	chr17:37796600-37809800	Weak transcription	Dnd41	blood
15	chr17:37797000-37808800	Weak transcription	Brain Germinal Matrix	brain
16	chr17:37797200-37808000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr17:37797600-37806000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr17:37798200-37813800	Weak transcription	GM12878-XiMat	blood
19	chr17:37798400-37807000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr17:37798800-37806200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr17:37798800-37808200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:37798800-37808800	Weak transcription	Ovary	ovary
23	chr17:37798800-37810400	Weak transcription	Fetal Thymus	thymus
24	chr17:37799800-37808200	Weak transcription	Colonic Mucosa	Colon
25	chr17:37799800-37809400	Weak transcription	Liver	Liver
26	chr17:37799800-37812400	Weak transcription	Psoas Muscle	Psoas
27	chr17:37799800-37819600	Weak transcription	Osteobl	bone
28	chr17:37800000-37806400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr17:37800000-37809400	Weak transcription	Adipose Nuclei	Adipose
30	chr17:37800000-37809400	Weak transcription	Esophagus	oesophagus
31	chr17:37800000-37809800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr17:37800000-37810000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr17:37800000-37812800	Weak transcription	NHLF	lung
34	chr17:37800000-37814000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr17:37800000-37815200	Weak transcription	HUVEC	blood vessel
36	chr17:37800000-37818600	Weak transcription	Hela-S3	cervix
37	chr17:37800000-37820000	Weak transcription	NH-A	brain
38	chr17:37800200-37807200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr17:37800200-37809200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr17:37800200-37810000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr17:37800200-37810600	Enhancers	Fetal Brain Male	brain
42	chr17:37800200-37810600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr17:37800200-37816800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr17:37800400-37808000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr17:37800400-37808400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr17:37800400-37814000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr17:37800600-37808200	Weak transcription	Brain Angular Gyrus	brain
48	chr17:37800600-37816200	Weak transcription	NHEK	skin
49	chr17:37800800-37808200	Weak transcription	Brain Anterior Caudate	brain
50	chr17:37800800-37808200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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